"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1929158	NM_002206.3(ITGA7):c.2535+20C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3007084	NM_002206.3(ITGA7):c.2535+19G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 498597	NM_002206.3(ITGA7):c.2535+5G>C	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 960181	NM_002206.3(ITGA7):c.2534C>T (p.Thr845Met)	ITGA7, LOC126861535 (T849M +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1415050	NM_002206.3(ITGA7):c.2500C>T (p.Arg834Trp)	ITGA7, LOC126861535 (R725W +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2997928	NM_002206.3(ITGA7):c.2491C>T (p.Gln831Ter)	ITGA7, LOC126861535 (Q718* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2071730	NM_002206.3(ITGA7):c.2483G>A (p.Arg828Lys)	ITGA7, LOC126861535 (R380K +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1133427	NM_002206.3(ITGA7):c.2478C>T (p.Gly826=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 943593	NM_002206.3(ITGA7):c.2476G>A (p.Gly826Ser)	ITGA7, LOC126861535 (G378S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1369811	NM_002206.3(ITGA7):c.2471T>G (p.Val824Gly)	ITGA7, LOC126861535 (V731G +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 537991	NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu)	ITGA7, LOC126861535 (V731L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 569702	NM_002206.3(ITGA7):c.2467G>A (p.Val823Met)	ITGA7, LOC126861535 (V730M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2420963	NM_002206.3(ITGA7):c.2466T>A (p.Gly822=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1504130	NM_002206.3(ITGA7):c.2453TCT[2] (p.Phe820del)	ITGA7, LOC126861535 (F711del +5 more)	Microsatellite (inframe_deletion +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 740230	NM_002206.3(ITGA7):c.2460C>T (p.Phe820=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 470574	NM_002206.3(ITGA7):c.2454C>G (p.Leu818=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1425593	NM_002206.3(ITGA7):c.2452C>T (p.Leu818Phe)	ITGA7, LOC126861535 (L812F +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 470573	NM_002206.3(ITGA7):c.2448G>A (p.Gln816=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2154907	NM_002206.3(ITGA7):c.2446C>T (p.Gln816Ter)	ITGA7, LOC126861535 (Q723* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 646812	NM_002206.3(ITGA7):c.2433-3C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 94039	NM_002206.3(ITGA7):c.2433-5G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 194941	NM_002206.3(ITGA7):c.2433-6C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1635937	NM_002206.3(ITGA7):c.2432+11C>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2793711	NM_002206.3(ITGA7):c.2419C>T (p.Leu807=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 758638	NM_002206.3(ITGA7):c.2418A>G (p.Pro806=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 970756	NM_002206.3(ITGA7):c.2412G>T (p.Glu804Asp)	ITGA7, LOC126861535 (E356D +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1088495	NM_002206.3(ITGA7):c.2409T>C (p.Ile803=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1658435	NM_002206.3(ITGA7):c.2401G>A (p.Val801Ile)	ITGA7, LOC126861535 (V353I +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GBenign
Select item 652085	NM_002206.3(ITGA7):c.2399G>C (p.Arg800Pro)	ITGA7, LOC126861535 (R707P +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 537994	NM_002206.3(ITGA7):c.2399G>A (p.Arg800His)	ITGA7, LOC126861535 (R707H +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2042008	NM_002206.3(ITGA7):c.2397C>T (p.Ala799=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 844969	NM_002206.3(ITGA7):c.2393G>A (p.Arg798Gln)	ITGA7, LOC126861535 (R792Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1484695	NM_002206.3(ITGA7):c.2392C>G (p.Arg798Gly)	ITGA7, LOC126861535 (R350G +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 844274	NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter)	ITGA7, LOC126861535 (R792* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic/Likely pathogenic
Select item 1348148	NM_002206.3(ITGA7):c.2387C>T (p.Ser796Phe)	ITGA7, LOC126861535 (S687F +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 864770	NM_002206.3(ITGA7):c.2380C>A (p.Pro794Thr)	ITGA7, LOC126861535 (P685T +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 639758	NM_002206.3(ITGA7):c.2363G>A (p.Ser788Asn)	ITGA7, LOC126861535 (S788N +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1047074	NM_002206.3(ITGA7):c.2359A>T (p.Ile787Phe)	ITGA7, LOC126861535 (I781F +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 796196	NM_002206.3(ITGA7):c.2358-4C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 998442	NM_002206.3(ITGA7):c.2358-8C>G	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1622866	NM_002206.3(ITGA7):c.2357+17C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2848205	NM_002206.3(ITGA7):c.2357+12G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2766214	NM_002206.3(ITGA7):c.2357+12G>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1384844	NM_002206.3(ITGA7):c.2357+11C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 704831	NM_002206.3(ITGA7):c.2357+10G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 162572	NM_002206.3(ITGA7):c.2357+1G>A	ITGA7, LOC126861535	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2154859	NM_002206.3(ITGA7):c.2357C>T (p.Thr786Met)	ITGA7, LOC126861535 (T711M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 834153	NM_002206.3(ITGA7):c.2347C>A (p.Leu783Met)	ITGA7, LOC126861535 (L335M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 761943	NM_002206.3(ITGA7):c.2346G>A (p.Leu782=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1394724	NM_002206.3(ITGA7):c.2331_2344del (p.Glu777fs)	ITGA7, LOC126861535 (E771fs +5 more)	Deletion (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 1468352	NM_002206.3(ITGA7):c.2339T>C (p.Val780Ala)	ITGA7, LOC126861535 (V774A +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2100713	NM_002206.3(ITGA7):c.2336A>C (p.Glu779Ala)	ITGA7, LOC126861535 (E666A +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2739685	NM_002206.3(ITGA7):c.2331A>G (p.Glu777=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1144551	NM_002206.3(ITGA7):c.2328G>T (p.Thr776=)	LOC126861535, ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 739958	NM_002206.3(ITGA7):c.2328G>A (p.Thr776=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1376619	NM_002206.3(ITGA7):c.2327C>T (p.Thr776Met)	ITGA7, LOC126861535 (T780M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 663963	NM_002206.3(ITGA7):c.2308G>A (p.Gly770Arg)	ITGA7, LOC126861535 (G322R +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1609458	NM_002206.3(ITGA7):c.2307C>G (p.Ser769=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1460009	NM_002206.3(ITGA7):c.2307C>T (p.Ser769=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 258584	NM_002206.3(ITGA7):c.2295C>T (p.Ile765=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194731	NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val)	ITGA7, LOC126861535 (I765V +13 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 660123	NM_002206.3(ITGA7):c.2290C>T (p.Leu764Phe)	ITGA7, LOC126861535 (L655F +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2063710	NM_002206.3(ITGA7):c.2288A>G (p.Tyr763Cys)	ITGA7, LOC126861535 (Y315C +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1045894	NM_002206.3(ITGA7):c.2282C>G (p.Thr761Ser)	ITGA7, LOC126861535 (T652S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 566812	NM_002206.3(ITGA7):c.2282C>T (p.Thr761Ile)	ITGA7, LOC126861535 (T761I +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 252541	NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile)	ITGA7, LOC126861535 (V760I +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2824329	NM_002206.3(ITGA7):c.2276del (p.Gln759fs)	ITGA7, LOC126861535 (Q646fs +13 more)	Deletion (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2100396	NM_002206.3(ITGA7):c.2273C>T (p.Ala758Val)	ITGA7, LOC126861535 (A649V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 941503	NM_002206.3(ITGA7):c.2270G>A (p.Gly757Asp)	ITGA7, LOC126861535 (G757D +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2042548	NM_002206.3(ITGA7):c.2269G>A (p.Gly757Ser)	ITGA7, LOC126861535 (G644S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1630639	NM_002206.3(ITGA7):c.2235T>C (p.His745=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2428251	NM_002206.3(ITGA7):c.2229C>T (p.Ala743=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 758060	NM_002206.3(ITGA7):c.2220T>C (p.Asn740=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1463340	NM_002206.3(ITGA7):c.2219A>G (p.Asn740Ser)	ITGA7, LOC126861535 (N744S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 309783	NM_002206.3(ITGA7):c.2217C>T (p.Ser739=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1965272	NM_002206.3(ITGA7):c.2197-2A>G	ITGA7, LOC126861535	Single nucleotide variant (splice acceptor variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 1154339	NM_002206.3(ITGA7):c.2197-7A>G	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 538011	NM_002206.3(ITGA7):c.2197-8del	ITGA7, LOC126861535	Deletion (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2037078	NM_002206.3(ITGA7):c.2197-18C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1912953	NM_002206.3(ITGA7):c.2196+20A>G	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1646176	NM_002206.3(ITGA7):c.2196+18G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1975324	NM_002206.3(ITGA7):c.2196+14G>T	LOC126861535, ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1089781	NM_002206.3(ITGA7):c.2196+7A>G	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2063072	NM_002206.3(ITGA7):c.2196G>A (p.Ala732=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 848916	NM_002206.3(ITGA7):c.2195C>T (p.Ala732Val)	ITGA7, LOC126861535 (A732V +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 855807	NM_002206.3(ITGA7):c.2188G>C (p.Asp730His)	ITGA7, LOC126861535 (D282H +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1055159	NM_002206.3(ITGA7):c.2183C>A (p.Ala728Asp)	ITGA7, LOC126861535 (A280D +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2167728	NM_002206.3(ITGA7):c.2179C>T (p.Arg727Trp)	ITGA7, LOC126861535 (R618W +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1004525	NM_002206.3(ITGA7):c.2177T>A (p.Val726Asp)	ITGA7, LOC126861535 (V278D +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1484472	NM_002206.3(ITGA7):c.2176G>A (p.Val726Ile)	ITGA7, LOC126861535 (V617I +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 842929	NM_002206.3(ITGA7):c.2169_2171del (p.Tyr723_Ser724delinsTer)	ITGA7, LOC126861535	Deletion (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 571144	NM_002206.3(ITGA7):c.2167T>C (p.Tyr723His)	ITGA7, LOC126861535 (Y630H +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 537999	NM_002206.3(ITGA7):c.2164C>T (p.His722Tyr)	ITGA7, LOC126861535 (H629Y +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 581106	NM_002206.3(ITGA7):c.2162T>C (p.Leu721Pro)	ITGA7, LOC126861535 (L628P +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 383215	NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu)	ITGA7, LOC126861535 (M623L +12 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1158503	NM_002206.3(ITGA7):c.2145C>A (p.Val715=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1929240	NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)	ITGA7, LOC126861535 (V606I +12 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2967426	NM_002206.3(ITGA7):c.2140C>T (p.Leu714=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2020026	NM_002206.3(ITGA7):c.2139C>G (p.Leu713=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1524928	NM_002206.3(ITGA7):c.2138T>C (p.Leu713Pro)	ITGA7, LOC126861535 (L604P +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance

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