ClinVar for Gene (Select 8434) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313480	NM_021111.3(RECK):c.697C>G (p.Leu233Val)	RECK (L233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313479	NM_021111.3(RECK):c.841C>T (p.Pro281Ser)	RECK (P153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313478	NM_021111.3(RECK):c.1300T>C (p.Ser434Pro)	RECK (S434P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313477	NM_021111.3(RECK):c.1475A>C (p.His492Pro)	RECK (H492P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3152832	NM_021111.3(RECK):c.922C>T (p.Leu308Phe)	RECK (L180F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152831	NM_021111.3(RECK):c.80G>T (p.Gly27Val)	LOC130001741, RECK (G27V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3152830	NM_021111.3(RECK):c.658G>A (p.Ala220Thr)	RECK (A92T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152829	NM_021111.3(RECK):c.412C>G (p.Leu138Val)	RECK (L138V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152828	NM_021111.3(RECK):c.2563G>T (p.Val855Phe)	RECK (V727F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152827	NM_021111.3(RECK):c.2398G>A (p.Ala800Thr)	RECK (A672T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152826	NM_021111.3(RECK):c.2164C>T (p.Pro722Ser)	RECK (P594S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152825	NM_021111.3(RECK):c.2162A>T (p.Asp721Val)	RECK (D721V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152824	NM_021111.3(RECK):c.1208A>T (p.Lys403Ile)	RECK (K403I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152823	NM_021111.3(RECK):c.1033C>A (p.Pro345Thr)	RECK (P345T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2659189	NM_021111.3(RECK):c.1665T>C (p.Tyr555=)	RECK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608057	NM_021111.3(RECK):c.95G>A (p.Ser32Asn)	LOC130001741, RECK (S32N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2604793	NM_021111.3(RECK):c.1717C>T (p.His573Tyr)	RECK (H445Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604292	NM_021111.3(RECK):c.148G>A (p.Val50Ile)	RECK (V50I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2603109	NM_021111.3(RECK):c.1658G>A (p.Gly553Asp)	RECK (G425D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564595	NM_021111.3(RECK):c.1463A>G (p.Glu488Gly)	RECK (E360G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560193	NM_021111.3(RECK):c.1613G>A (p.Arg538His)	RECK (R538H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549534	NM_021111.3(RECK):c.1856A>T (p.His619Leu)	RECK (H491L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537762	NM_021111.3(RECK):c.2039A>T (p.Asn680Ile)	RECK (N680I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534837	NM_021111.3(RECK):c.1361C>G (p.Thr454Arg)	RECK (T326R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525047	NM_021111.3(RECK):c.143G>A (p.Arg48His)	RECK (R48H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2512537	NM_021111.3(RECK):c.2638G>A (p.Glu880Lys)	RECK (E752K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491853	NM_021111.3(RECK):c.61G>T (p.Val21Phe)	LOC130001741, RECK (V21F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2491152	NM_021111.3(RECK):c.2855A>C (p.His952Pro)	RECK (H824P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470111	NM_021111.3(RECK):c.201G>T (p.Leu67Phe)	RECK (L67F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2458972	NM_021111.3(RECK):c.742G>A (p.Glu248Lys)	RECK (E120K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457588	NM_021111.3(RECK):c.1744A>G (p.Ile582Val)	RECK (I582V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	RGP1, RMRP +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 2406023	NM_021111.3(RECK):c.970C>T (p.Arg324Cys)	RECK (R324C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401249	NM_021111.3(RECK):c.2817T>A (p.Ser939Arg)	RECK (S811R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374094	NM_021111.3(RECK):c.2590A>T (p.Met864Leu)	RECK (M864L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366797	NM_021111.3(RECK):c.1146G>C (p.Met382Ile)	RECK (M382I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358842	NM_021111.3(RECK):c.869T>G (p.Leu290Trp)	RECK (L290W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357162	NM_021111.3(RECK):c.2395G>A (p.Val799Ile)	RECK (V671I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345564	NM_021111.3(RECK):c.2344G>A (p.Asp782Asn)	RECK (D782N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318494	NM_021111.3(RECK):c.1220C>A (p.Pro407Gln)	RECK (P279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318018	NM_021111.3(RECK):c.2090C>T (p.Thr697Met)	RECK (T569M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310925	NM_021111.3(RECK):c.1969C>T (p.Arg657Cys)	RECK (R529C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290281	NM_021111.3(RECK):c.2055C>G (p.Asn685Lys)	RECK (N685K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289011	NM_021111.3(RECK):c.2539G>A (p.Val847Ile)	RECK (V719I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289010	NM_021111.3(RECK):c.239A>C (p.Glu80Ala)	RECK (E80A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2282594	NM_021111.3(RECK):c.2785C>G (p.Leu929Val)	RECK (L801V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274276	NM_021111.3(RECK):c.59G>T (p.Gly20Val)	LOC130001741, RECK (G20V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2271375	NM_021111.3(RECK):c.1997T>G (p.Phe666Cys)	RECK (F666C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269933	NM_021111.3(RECK):c.1728C>G (p.Asp576Glu)	RECK (D448E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263608	NM_021111.3(RECK):c.2386C>T (p.His796Tyr)	RECK (H668Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260140	NM_021111.3(RECK):c.245G>C (p.Trp82Ser)	RECK (W82S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253799	NM_021111.3(RECK):c.2335G>A (p.Val779Met)	RECK (V651M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253770	NM_021111.3(RECK):c.2278G>A (p.Val760Ile)	RECK (V632I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251900	NM_021111.3(RECK):c.1234G>A (p.Ala412Thr)	RECK (A284T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236676	NM_021111.3(RECK):c.2333G>A (p.Arg778His)	RECK (R650H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236194	NM_021111.3(RECK):c.298G>C (p.Val100Leu)	RECK (V100L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235946	NM_021111.3(RECK):c.2531T>C (p.Ile844Thr)	RECK (I716T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225893	NM_021111.3(RECK):c.1621A>G (p.Thr541Ala)	RECK (T413A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223684	NM_021111.3(RECK):c.1970G>A (p.Arg657His)	RECK (R657H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215135	NM_021111.3(RECK):c.2906C>T (p.Thr969Ile)	RECK (T969I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205085	NM_021111.3(RECK):c.1764A>T (p.Lys588Asn)	RECK (K588N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204714	NM_021111.3(RECK):c.2272G>A (p.Glu758Lys)	RECK (E758K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	ARHGEF39, ATOSB +42 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210153	GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1	MELK, PAX5 +22 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1070621	NC_000009.11:g.(?_34459004)_(36276941_?)del	ARHGEF39, ARID3C +48 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 1041826	NC_000009.11:g.(?_35683146)_(36277049_?)dup	GLIPR2, GNE +17 more	Duplication	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 770385	NM_021111.3(RECK):c.160-8T>G	RECK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768292	NM_021111.3(RECK):c.2829C>T (p.Ala943=)	RECK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729613	NM_021111.3(RECK):c.1304A>G (p.Asp435Gly)	RECK (D307G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 707848	NM_021111.3(RECK):c.1299-3A>C	RECK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 584345	NC_000009.11:g.(?_34458984)_(36277059_?)dup	ARHGEF39, ARID3C +48 more	Duplication	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic

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