729920[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
Select item 144255	GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1	AGMO, AGR2 +23 more	Copy number loss	See cases	GPathogenic
Select item 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 910406	NM_001101426.4(CRPPA):c.*4159T>C	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359482	NM_001101426.4(CRPPA):c.*4116A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359483	NM_001101426.4(CRPPA):c.*4092A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 910407	NM_001101426.4(CRPPA):c.*4069C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359485	NM_001101426.4(CRPPA):c.*4023C>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 359484	NM_001101426.4(CRPPA):c.*4023C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359486	NM_001101426.4(CRPPA):c.*4010G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 911626	NM_001101426.4(CRPPA):c.*4000G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359487	NM_001101426.4(CRPPA):c.*3806C>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359488	NM_001101426.4(CRPPA):c.*3792A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359489	NM_001101426.4(CRPPA):c.*3578del	CRPPA	Deletion (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 911627	NM_001101426.4(CRPPA):c.*3561A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 911628	NM_001101426.4(CRPPA):c.*3550G>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 911629	NM_001101426.4(CRPPA):c.*3525T>C	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359490	NM_001101426.4(CRPPA):c.*3491G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359491	NM_001101426.4(CRPPA):c.*3475C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 908674	NM_001101426.4(CRPPA):c.*3457G>C	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 908675	NM_001101426.4(CRPPA):c.*3395A>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 908676	NM_001101426.4(CRPPA):c.*3374C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GLikely benign
Select item 908677	NM_001101426.4(CRPPA):c.*3362C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359492	NM_001101426.4(CRPPA):c.*3287G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 908678	NM_001101426.4(CRPPA):c.*3284A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GLikely benign
Select item 908679	NM_001101426.4(CRPPA):c.*3283G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359493	NM_001101426.4(CRPPA):c.3281_3282dup	CRPPA	Duplication (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +1 more	GUncertain significance
Select item 359494	NM_001101426.4(CRPPA):c.3275_3282del	CRPPA	Deletion (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 359495	NM_001101426.4(CRPPA):c.3261_3269delinsG	CRPPA	Indel (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359496	NM_001101426.4(CRPPA):c.*3261A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359497	NM_001101426.4(CRPPA):c.*3254C>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GLikely benign
Select item 909535	NM_001101426.4(CRPPA):c.*3217G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359498	NM_001101426.4(CRPPA):c.*3196C>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359499	NM_001101426.4(CRPPA):c.*3191C>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 909536	NM_001101426.4(CRPPA):c.*3189G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359500	NM_001101426.4(CRPPA):c.*3187G>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359501	NM_001101426.4(CRPPA):c.*3161T>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 910462	NM_001101426.4(CRPPA):c.*3146G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359502	NM_001101426.4(CRPPA):c.*3139A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359503	NM_001101426.4(CRPPA):c.*3133G>C	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359504	NM_001101426.4(CRPPA):c.*3123C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 910463	NM_001101426.4(CRPPA):c.*3121A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359505	NM_001101426.4(CRPPA):c.*3091C>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 359506	NM_001101426.4(CRPPA):c.*3087G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GLikely benign
Select item 910464	NM_001101426.4(CRPPA):c.*3076G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 911692	NM_001101426.4(CRPPA):c.*3075C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359507	NM_001101426.4(CRPPA):c.*3025C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 911693	NM_001101426.4(CRPPA):c.*2981C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GLikely benign
Select item 359508	NM_001101426.4(CRPPA):c.*2926A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 911694	NM_001101426.4(CRPPA):c.*2915A>C	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359509	NM_001101426.4(CRPPA):c.*2846G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359510	NM_001101426.4(CRPPA):c.*2801T>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 911695	NM_001101426.4(CRPPA):c.*2775G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359511	NM_001101426.4(CRPPA):c.*2759G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 908735	NM_001101426.4(CRPPA):c.*2635A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359512	NM_001101426.4(CRPPA):c.*2566A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 359513	NM_001101426.4(CRPPA):c.*2522G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 908736	NM_001101426.4(CRPPA):c.*2519T>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 908737	NM_001101426.4(CRPPA):c.*2518G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359514	NM_001101426.4(CRPPA):c.*2512A>C	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359515	NM_001101426.4(CRPPA):c.*2493TA[2]	CRPPA	Microsatellite (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GLikely benign
Select item 908738	NM_001101426.4(CRPPA):c.*2491C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 359516	NM_001101426.4(CRPPA):c.*2488G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GLikely benign
Select item 909592	NM_001101426.4(CRPPA):c.*2465C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359517	NM_001101426.4(CRPPA):c.*2464G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 909593	NM_001101426.4(CRPPA):c.*2459C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359518	NM_001101426.4(CRPPA):c.*2446AT[2]	CRPPA	Microsatellite (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359519	NM_001101426.4(CRPPA):c.*2432G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 909594	NM_001101426.4(CRPPA):c.*2408G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359520	NM_001101426.4(CRPPA):c.*2404G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 909595	NM_001101426.4(CRPPA):c.*2403C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 909596	NM_001101426.4(CRPPA):c.*2383T>C	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 2657326	NM_001101426.4(CRPPA):c.2369_2379TA[3]CGTACACATACACACATATATGTATATACGTAC[1]	CRPPA	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 359521	NM_001101426.4(CRPPA):c.*2380G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +1 more	GUncertain significance
Select item 359522	NM_001101426.4(CRPPA):c.*2379C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359523	NM_001101426.4(CRPPA):c.2368_2373del	CRPPA	Deletion (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GLikely benign
Select item 359524	NM_001101426.4(CRPPA):c.*2368T>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 359525	NM_001101426.4(CRPPA):c.*2352G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359526	NM_001101426.4(CRPPA):c.*2351C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GLikely benign
Select item 910518	NM_001101426.4(CRPPA):c.*2349T>C	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359527	NM_001101426.4(CRPPA):c.*2336G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +1 more	GUncertain significance
Select item 910519	NM_001101426.4(CRPPA):c.*2333T>C	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 911760	NM_001101426.4(CRPPA):c.*2328G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 911761	NM_001101426.4(CRPPA):c.*2326A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 911762	NM_001101426.4(CRPPA):c.*2325C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 359528	NM_001101426.4(CRPPA):c.2321_2324dup	CRPPA	Duplication (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GBenign
Select item 911763	NM_001101426.4(CRPPA):c.*2313C>T	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related	GUncertain significance
Select item 359529	NM_001101426.4(CRPPA):c.*2310A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance

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