ClinVar for Gene (Select 3655) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352378	NM_000210.4(ITGA6):c.2679+4T>G	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	ITGA6-related disorder	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 3286732	NM_000210.4(ITGA6):c.1766A>G (p.Gln589Arg)	ITGA6, PDK1-AS1 (Q628R +2 more)	Single nucleotide variant (missense variant)	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 3286730	NM_000210.4(ITGA6):c.1927T>G (p.Cys643Gly)	ITGA6, PDK1-AS1 (C682G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286729	NM_000210.4(ITGA6):c.1099A>T (p.Ile367Phe)	ITGA6 (I248F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286728	NM_000210.4(ITGA6):c.2929G>A (p.Ala977Thr)	ITGA6, PDK1-AS1 (A858T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286727	NM_000210.4(ITGA6):c.850A>T (p.Asn284Tyr)	ITGA6 (N284Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247461	NC_000002.11:g.(?_173332189)_(173332308_?)del	ITGA6	Deletion	not provided	GPathogenic
Select item 3247460	NC_000002.11:g.(?_173330247)_(173330411_?)del	ITGA6	Deletion	not provided	GPathogenic
Select item 3247459	NC_000002.11:g.(?_173292517)_(173292718_?)del	ITGA6	Deletion	not provided	GPathogenic
Select item 3111258	NM_000210.4(ITGA6):c.962C>T (p.Ala321Val)	ITGA6 (A321V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111257	NM_000210.4(ITGA6):c.524G>A (p.Cys175Tyr)	ITGA6 (C175Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3111254	NM_000210.4(ITGA6):c.3001G>A (p.Val1001Met)	ITGA6, PDK1-AS1 (V1001M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111253	NM_000210.4(ITGA6):c.2765A>C (p.Lys922Thr)	ITGA6, PDK1-AS1 (K961T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111252	NM_000210.4(ITGA6):c.2578A>C (p.Ser860Arg)	ITGA6, PDK1-AS1 (S741R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111251	NM_000210.4(ITGA6):c.1488C>G (p.Cys496Trp)	ITGA6 (C377W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3111249	NM_000210.4(ITGA6):c.1051G>C (p.Val351Leu)	ITGA6 (V351L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067963	NM_000210.4(ITGA6):c.3220T>C (p.Ter1074Gln)	ITGA6, PDK1-AS1	Single nucleotide variant (stop lost +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GLikely benign
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3059881	NM_001394928.1(ITGA6):c.892G>A (p.Gly298Ser)	ITGA6 (G140S +1 more)	Single nucleotide variant (missense variant +1 more)	ITGA6-related disorder	GBenign
Select item 3048327	NM_001394928.1(ITGA6):c.844C>A (p.Arg282=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	ITGA6-related disorder	GLikely benign
Select item 3033432	NM_000210.4(ITGA6):c.2679+6T>G	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	ITGA6-related disorder	GLikely benign
Select item 3023441	NM_000210.4(ITGA6):c.1488-19T>C	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022844	NM_000210.4(ITGA6):c.2448C>T (p.Gly816=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016465	NM_000210.4(ITGA6):c.1971-5A>G	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016032	NM_000210.4(ITGA6):c.2595G>A (p.Leu865=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014960	NM_000210.4(ITGA6):c.675T>G (p.Thr225=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014172	NM_000210.4(ITGA6):c.3159A>G (p.Thr1053=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013956	NM_000210.4(ITGA6):c.2787C>T (p.Ser929=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013850	NM_000210.4(ITGA6):c.1515T>C (p.Tyr505=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011287	NM_000210.4(ITGA6):c.1710+13G>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010453	NM_000210.4(ITGA6):c.1509T>C (p.Phe503=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010071	NM_000210.4(ITGA6):c.987-10A>G	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008840	NM_000210.4(ITGA6):c.2968C>T (p.Leu990=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008776	NM_000210.4(ITGA6):c.1388+14G>T	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007411	NM_000210.4(ITGA6):c.921C>T (p.Phe307=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007369	NM_000210.4(ITGA6):c.936G>A (p.Leu312=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006475	NM_000210.4(ITGA6):c.831A>G (p.Val277=)	ITGA6	Single nucleotide variant (synonymous 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 3004965	NM_000210.4(ITGA6):c.2292C>T (p.Thr764=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004221	NM_000210.4(ITGA6):c.3099G>A (p.Val1033=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004189	NM_000210.4(ITGA6):c.3021A>G (p.Val1007=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003680	NM_000210.4(ITGA6):c.1932C>T (p.Thr644=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3002427	NM_000210.4(ITGA6):c.387+19G>A	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000899	NM_000210.4(ITGA6):c.1488-18G>A	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000754	NM_000210.4(ITGA6):c.1487+20G>A	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 3000044	NM_000210.4(ITGA6):c.2403-11del	ITGA6, PDK1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 3000003	NM_000210.4(ITGA6):c.2061T>C (p.Asn687=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	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 2997589	NM_000210.4(ITGA6):c.2100G>A (p.Leu700=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous 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 2997385	NM_000210.4(ITGA6):c.1536T>C (p.Tyr512=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996995	NM_000210.4(ITGA6):c.1855-20T>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996907	NM_000210.4(ITGA6):c.2680-20T>A	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996761	NM_000210.4(ITGA6):c.2679+8G>A	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996104	NM_000210.4(ITGA6):c.2859C>T (p.Arg953=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994938	NM_000210.4(ITGA6):c.1275C>T (p.Leu425=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994083	NM_000210.4(ITGA6):c.2181T>G (p.Val727=)	PDK1-AS1, ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993302	NM_000210.4(ITGA6):c.2324+18C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993018	NM_000210.4(ITGA6):c.1269+15G>A	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992845	NM_000210.4(ITGA6):c.3219A>T (p.Ala1073=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991708	NM_000210.4(ITGA6):c.2821C>T (p.Leu941=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990350	NM_000210.4(ITGA6):c.2324+16A>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989833	NM_000210.4(ITGA6):c.2505+13A>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	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 2988748	NM_000210.4(ITGA6):c.2679+16_2679+20del	ITGA6, PDK1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2987230	NM_000210.4(ITGA6):c.1158T>C (p.Asp386=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986559	NM_000210.4(ITGA6):c.1181-17T>A	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985922	NM_000210.4(ITGA6):c.633T>C (p.Tyr211=)	ITGA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985683	NM_000210.4(ITGA6):c.1181-11G>A	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985633	NM_000210.4(ITGA6):c.986+12T>C	ITGA6	Single nucleotide variant (intron variant)	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 2983919	NM_000210.4(ITGA6):c.987-11T>C	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983813	NM_000210.4(ITGA6):c.387+9A>G	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982929	NM_000210.4(ITGA6):c.2170T>C (p.Leu724=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous 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 2982634	NM_000210.4(ITGA6):c.2680-18G>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981444	NM_000210.4(ITGA6):c.1855-12G>A	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	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 2981229	NM_000210.4(ITGA6):c.102C>A (p.Ile34=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980204	NM_000210.4(ITGA6):c.1269+14C>T	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980098	NM_000210.4(ITGA6):c.1224dup (p.Ile409fs)	ITGA6 (I290fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2979672	NM_000210.4(ITGA6):c.2988+9T>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979638	NM_000210.4(ITGA6):c.2680-16del	ITGA6, PDK1-AS1	Deletion (intron variant)	not provided	GLikely benign
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 2979353	NM_000210.4(ITGA6):c.2874C>T (p.Asn958=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979131	NM_000210.4(ITGA6):c.2889+16G>A	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978290	NM_000210.4(ITGA6):c.3057A>G (p.Leu1019=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976985	NM_000210.4(ITGA6):c.2679+8G>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976648	NM_000210.4(ITGA6):c.1464G>A (p.Ala488=)	ITGA6	Single nucleotide variant (synonymous variant)	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 2976554	NM_000210.4(ITGA6):c.2779-9T>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976410	NM_000210.4(ITGA6):c.1776C>T (p.Ser592=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975799	NM_000210.4(ITGA6):c.1487+13C>T	ITGA6	Single nucleotide variant (intron variant)	not provided	GLikely benign

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