6142[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 154600	GRCh38/hg38 2q31.1(chr2:172296909-172932166)x3	ITGA6, ITGA6-AS1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 332351	NM_000210.4(ITGA6):c.-156G>A	ITGA6	Single nucleotide variant (5 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 332352	NM_000210.4(ITGA6):c.-138G>A	ITGA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 332353	NM_000210.4(ITGA6):c.-122C>T	ITGA6	Single nucleotide variant (5 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894581	NM_000210.4(ITGA6):c.-28C>A	ITGA6	Single nucleotide variant (5 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 332354	NM_000210.4(ITGA6):c.-14C>G	ITGA6	Single nucleotide variant (5 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign
Select item 743028	NM_000210.4(ITGA6):c.6C>T (p.Ala2=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972393	NM_000210.4(ITGA6):c.9C>A (p.Ala3=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 332355	NM_000210.4(ITGA6):c.10G>A (p.Ala4Thr)	ITGA6 (A4T)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GLikely benign
Select item 2989180	NM_000210.4(ITGA6):c.12C>G (p.Ala4=)	ITGA6	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2748195	NM_000210.4(ITGA6):c.15G>C (p.Gly5=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981344	NM_000210.4(ITGA6):c.19C>T (p.Leu7=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786028	NM_000210.4(ITGA6):c.21G>A (p.Leu7=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2799793	NM_000210.4(ITGA6):c.24C>T (p.Cys8=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794145	NM_000210.4(ITGA6):c.30C>T (p.Leu10=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830962	NM_000210.4(ITGA6):c.39G>C (p.Ser13=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3286733	NM_000210.4(ITGA6):c.40G>A (p.Ala14Thr)	ITGA6 (A14T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2979551	NM_000210.4(ITGA6):c.42G>A (p.Ala14=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2200802	NM_000210.4(ITGA6):c.55C>T (p.Arg19Trp)	ITGA6 (R19W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3002712	NM_000210.4(ITGA6):c.60C>T (p.Leu20=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2839510	NM_000210.4(ITGA6):c.88G>T (p.Glu30Ter)	ITGA6 (E30*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2981229	NM_000210.4(ITGA6):c.102C>A (p.Ile34=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930365	NM_000210.4(ITGA6):c.102C>T (p.Ile34=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2801303	NM_000210.4(ITGA6):c.108A>G (p.Lys36=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976633	NM_000210.4(ITGA6):c.117C>T (p.Asp39=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3111250	NM_000210.4(ITGA6):c.119C>T (p.Pro40Leu)	ITGA6 (P40L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3286731	NM_000210.4(ITGA6):c.127C>A (p.Leu43Ile)	ITGA6 (L43I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2794658	NM_000210.4(ITGA6):c.135C>T (p.Gly45=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900831	NM_000210.4(ITGA6):c.138C>T (p.Phe46=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1526406	NM_000210.4(ITGA6):c.140C>T (p.Ser47Leu)	ITGA6	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GPathogenic
Select item 713777	NM_000210.4(ITGA6):c.148A>G (p.Met50Val)	ITGA6 (M50V)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GLikely benign
Select item 2375074	NM_000210.4(ITGA6):c.149T>C (p.Met50Thr)	ITGA6 (M50T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527347	NM_000210.4(ITGA6):c.157C>G (p.Gln53Glu)	ITGA6 (Q53E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2966457	NM_000210.4(ITGA6):c.162G>A (p.Leu54=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2477979	NM_000210.4(ITGA6):c.176A>C (p.Lys59Thr)	ITGA6 (K59T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2804085	NM_000210.4(ITGA6):c.182+8C>G	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 332356	NM_000210.4(ITGA6):c.182+11A>G	ITGA6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 332357	NM_000210.4(ITGA6):c.182+15C>T	ITGA6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1267491	NM_000210.4(ITGA6):c.182+30T>C	ITGA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260500	NM_000210.4(ITGA6):c.182+91G>T	ITGA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276827	NM_000210.4(ITGA6):c.182+187C>T	ITGA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599744	NM_000210.4(ITGA6):c.183-18714A>G	ITGA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267500	NM_000210.4(ITGA6):c.183-302T>A	ITGA6, ITGA6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2834514	NM_000210.4(ITGA6):c.183-20T>G	ITGA6, ITGA6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982690	NM_000210.4(ITGA6):c.183-15_183-14del	ITGA6, ITGA6-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2972189	NM_000210.4(ITGA6):c.183-16T>C	ITGA6, ITGA6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822301	NM_000210.4(ITGA6):c.183-10T>G	ITGA6, ITGA6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005841	NM_000210.4(ITGA6):c.183-6C>T	ITGA6, ITGA6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857820	NM_000210.4(ITGA6):c.184T>C (p.Leu62=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998477	NM_000210.4(ITGA6):c.189C>G (p.Leu63=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2721602	NM_000210.4(ITGA6):c.189C>T (p.Leu63=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 745028	NM_000210.4(ITGA6):c.201G>A (p.Pro67=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2972601	NM_000210.4(ITGA6):c.213G>A (p.Ala71=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805374	NM_000210.4(ITGA6):c.213G>T (p.Ala71=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717281	NM_000210.4(ITGA6):c.240G>A (p.Thr80=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 781823	NM_000210.4(ITGA6):c.258C>T (p.Cys86=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 632333	NM_000210.4(ITGA6):c.258C>A (p.Cys86Ter)	ITGA6, ITGA6-AS1 (C86*)	Single nucleotide variant (nonsense +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 2724830	NM_000210.4(ITGA6):c.267C>T (p.Thr89=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2257460	NM_000210.4(ITGA6):c.268G>A (p.Ala90Thr)	ITGA6, ITGA6-AS1 (A90T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2877990	NM_000210.4(ITGA6):c.285G>A (p.Thr95=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984957	NM_000210.4(ITGA6):c.286C>A (p.Arg96=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2829222	NM_000210.4(ITGA6):c.294G>A (p.Glu98=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2918584	NM_000210.4(ITGA6):c.303C>T (p.Asn101=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419235	NM_000210.4(ITGA6):c.304G>A (p.Asp102Asn)	ITGA6, ITGA6-AS1 (D102N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2771301	NM_000210.4(ITGA6):c.307+1dup	ITGA6, ITGA6-AS1	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 2736863	NM_000210.4(ITGA6):c.307+15C>G	ITGA6, ITGA6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997445	NM_000210.4(ITGA6):c.307+17C>T	ITGA6, ITGA6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265591	NM_000210.4(ITGA6):c.307+158T>G	ITGA6, ITGA6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252480	NM_000210.4(ITGA6):c.307+159_307+160del	ITGA6, ITGA6-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1182935	NM_000210.4(ITGA6):c.307+316G>C	ITGA6-AS1, ITGA6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1253240	NM_000210.4(ITGA6):c.308-273C>T	ITGA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223349	NM_000210.4(ITGA6):c.308-235A>T	ITGA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267969	NM_000210.4(ITGA6):c.308-194G>T	ITGA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291067	NM_000210.4(ITGA6):c.308-94G>A	ITGA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2845743	NM_000210.4(ITGA6):c.308-16A>G	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852761	NM_000210.4(ITGA6):c.309T>C (p.Ala103=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901764	NM_000210.4(ITGA6):c.312C>T (p.Asp104=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3111255	NM_000210.4(ITGA6):c.313C>T (p.Pro105Ser)	ITGA6 (P105S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2957892	NM_000210.4(ITGA6):c.318G>A (p.Thr106=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3111256	NM_000210.4(ITGA6):c.331G>A (p.Glu111Lys)	ITGA6 (E111K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2827871	NM_000210.4(ITGA6):c.333A>G (p.Glu111=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2043614	NM_000210.4(ITGA6):c.343A>T (p.Met115Leu)	ITGA6 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2861210	NM_000210.4(ITGA6):c.372dup (p.Gly125fs)	ITGA6 (G11fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2704237	NM_000210.4(ITGA6):c.372A>G (p.Pro124=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781938	NM_000210.4(ITGA6):c.377del (p.Gly126fs)	ITGA6 (G12fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2704157	NM_000210.4(ITGA6):c.378del (p.Lys127fs)	ITGA6 (K127fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2740735	NM_000210.4(ITGA6):c.384C>T (p.Val128=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526408	NM_000210.4(ITGA6):c.387G>T (p.Val129=)	ITGA6	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GPathogenic
Select item 2696567	NM_000210.4(ITGA6):c.387+1G>A	ITGA6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2983813	NM_000210.4(ITGA6):c.387+9A>G	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000708	NM_000210.4(ITGA6):c.387+11A>C	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786384	NM_000210.4(ITGA6):c.387+11A>T	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807846	NM_000210.4(ITGA6):c.387+16_387+17del	ITGA6	Microsatellite (intron variant)	not provided	GLikely benign

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