ClinVar for Gene (Select 3679) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286739	NM_002206.3(ITGA7):c.239T>G (p.Leu80Arg)	ITGA7 (L80R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3286738	NM_002206.3(ITGA7):c.1856A>G (p.Asn619Ser)	ITGA7 (N510S +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286737	NM_002206.3(ITGA7):c.512C>T (p.Ala171Val)	ITGA7 (A58V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3286736	NM_002206.3(ITGA7):c.1923G>T (p.Lys641Asn)	ITGA7 (K193N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261072	NM_001487.4(BLOC1S1):c.4G>C (p.Ala2Pro)	BLOC1S1, BLOC1S1-RDH5 +1 more (A2P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261071	NM_001487.4(BLOC1S1):c.37C>T (p.Arg13Trp)	BLOC1S1, BLOC1S1-RDH5 +1 more (R13W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261070	NM_001487.4(BLOC1S1):c.17G>C (p.Arg6Pro)	BLOC1S1, BLOC1S1-RDH5 +1 more (R6P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3251686	NM_002206.3(ITGA7):c.671-370A>G	ITGA7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3250661	NM_002206.3(ITGA7):c.1491C>T (p.Gly497=)	ITGA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242261	NM_002206.3(ITGA7):c.97_98insTG (p.Ala33fs)	ITGA7 (A33fs)	Insertion (frameshift variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 3134132	NM_001487.4(BLOC1S1):c.26G>A (p.Arg9His)	BLOC1S1, BLOC1S1-RDH5 +1 more (R9H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134131	NM_001487.4(BLOC1S1):c.20G>A (p.Gly7Asp)	BLOC1S1, BLOC1S1-RDH5 +1 more (G7D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3111262	NM_002206.3(ITGA7):c.444G>T (p.Gln148His)	ITGA7 (Q35H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111261	NM_002206.3(ITGA7):c.1416A>T (p.Arg472Ser)	ITGA7 (R411S +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111260	NM_002206.3(ITGA7):c.1106C>T (p.Ser369Phe)	ITGA7 (S256F +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111259	NM_002206.3(ITGA7):c.1019G>T (p.Gly340Val)	ITGA7 (G300V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063579	NM_002206.3(ITGA7):c.206+2T>A	ITGA7	Single nucleotide variant (splice donor variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 3053124	NM_001144997.2(ITGA7):c.-9A>G	ITGA7	Single nucleotide variant (5 prime UTR variant)	ITGA7-related disorder	GLikely benign
Select item 3049386	NM_002206.3(ITGA7):c.2003+10G>A	ITGA7	Single nucleotide variant (intron variant)	ITGA7-related disorder	GLikely benign
Select item 3047287	NM_002206.3(ITGA7):c.2845-20C>T	ITGA7	Single nucleotide variant (intron variant)	ITGA7-related disorder	GLikely benign
Select item 3030575	NM_002206.3(ITGA7):c.-4T>G	ITGA7	Single nucleotide variant (5 prime UTR variant +1 more)	ITGA7-related disorder	GLikely benign
Select item 3027223	NM_002206.3(ITGA7):c.2343G>A (p.Glu781=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012942	NM_002206.3(ITGA7):c.3405C>T (p.Gly1135=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3010843	NM_002206.3(ITGA7):c.840C>T (p.Ser280=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3009339	NM_002206.3(ITGA7):c.216G>A (p.Val72=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 3008981	NM_002206.3(ITGA7):c.2959-2A>G	ITGA7	Single nucleotide variant (splice acceptor variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
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 2997928	NM_002206.3(ITGA7):c.2491C>T (p.Gln831Ter)	LOC126861535, ITGA7 (Q718* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2987631	NM_002206.3(ITGA7):c.3057+7T>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2981513	NM_002206.3(ITGA7):c.1212C>A (p.Pro404=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2980066	NM_002206.3(ITGA7):c.1116G>A (p.Arg372=)	ITGA7	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2979023	NM_002206.3(ITGA7):c.2712+18G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2977614	NM_002206.3(ITGA7):c.3184-18G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2971112	NM_002206.3(ITGA7):c.2706C>T (p.Leu902=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2970343	NM_002206.3(ITGA7):c.1107C>T (p.Ser369=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2968120	NM_002206.3(ITGA7):c.790+5G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	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 2959770	NM_002206.3(ITGA7):c.1452T>C (p.Ala484=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2958874	NM_002206.3(ITGA7):c.2712+9T>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2918588	NM_002206.3(ITGA7):c.2082G>A (p.Leu694=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2918488	NM_002206.3(ITGA7):c.2003+11C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2913636	NM_002206.3(ITGA7):c.3072A>G (p.Val1024=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2911826	NM_002206.3(ITGA7):c.1327_1328del (p.Leu443fs)	ITGA7 (L330fs +9 more)	Deletion (frameshift variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2911269	NM_002206.3(ITGA7):c.2004-1G>A	ITGA7, LOC126861535	Single nucleotide variant (splice acceptor variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 2905888	NM_002206.3(ITGA7):c.2103C>T (p.Pro701=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2905824	NM_002206.3(ITGA7):c.60C>T (p.Gly20=)	ITGA7	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2903612	NM_002206.3(ITGA7):c.933G>A (p.Leu311=)	ITGA7	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2902709	NM_002206.3(ITGA7):c.3090T>C (p.Ala1030=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2899938	NM_002206.3(ITGA7):c.415-3C>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2897739	NM_002206.3(ITGA7):c.843T>C (p.Phe281=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2894340	NM_002206.3(ITGA7):c.768C>T (p.Asp256=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2891692	NM_002206.3(ITGA7):c.1966del (p.Thr656fs)	ITGA7 (T208fs +12 more)	Deletion (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2873714	NM_002206.3(ITGA7):c.2749dup (p.Glu917fs)	ITGA7 (E917fs +5 more)	Duplication (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2867072	NM_002206.3(ITGA7):c.1241A>C (p.Tyr414Ser)	ITGA7 (Y353S +9 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2862231	NM_002206.3(ITGA7):c.81C>T (p.Leu27=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2857028	NM_002206.3(ITGA7):c.1567+15C>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2854361	NM_002206.3(ITGA7):c.671-5C>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2851576	NM_002206.3(ITGA7):c.3058-13C>T	ITGA7	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 2826194	NM_002206.3(ITGA7):c.75A>G (p.Glu25=)	ITGA7	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
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 2818136	NM_002206.3(ITGA7):c.704A>T (p.Asp235Val)	ITGA7 (D235V +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2807452	NM_002206.3(ITGA7):c.1872C>T (p.Ser624=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2800249	NM_002206.3(ITGA7):c.3057+16G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2795167	NM_002206.3(ITGA7):c.1086G>A (p.Gly362=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	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 2782560	NM_002206.3(ITGA7):c.66G>C (p.Leu22=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2782531	NM_002206.3(ITGA7):c.3290G>T (p.Gly1097Val)	ITGA7 (G1036V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2781762	NM_002206.3(ITGA7):c.3058-6C>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2780776	NM_002206.3(ITGA7):c.2817del (p.Ala940fs)	ITGA7 (A847fs +13 more)	Deletion (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
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 2760764	NM_002206.3(ITGA7):c.790+7A>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2754389	NM_002206.3(ITGA7):c.1738-12T>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2753782	NM_002206.3(ITGA7):c.1767del (p.Ile589fs)	ITGA7 (I476fs +12 more)	Deletion (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2747370	NM_002206.3(ITGA7):c.3184-5T>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2744792	NM_002206.3(ITGA7):c.1500G>A (p.Ser500=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2742495	NM_002206.3(ITGA7):c.1674G>A (p.Ser558=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2741209	NM_002206.3(ITGA7):c.2667T>A (p.Pro889=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
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 2737967	NM_002206.3(ITGA7):c.335-11C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2734371	NM_002206.3(ITGA7):c.1887+14C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2733814	NM_002206.3(ITGA7):c.414+17A>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2728940	NM_002206.3(ITGA7):c.1888-5C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2723032	NM_002206.3(ITGA7):c.3057+20G>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2718306	NM_002206.3(ITGA7):c.998+4A>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2714422	NM_002206.3(ITGA7):c.1077G>A (p.Leu359=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2708607	NM_002206.3(ITGA7):c.206+14C>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2708525	NM_002206.3(ITGA7):c.1738-10C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2708013	NM_002206.3(ITGA7):c.1614C>T (p.Gly538=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2689262	NM_002206.3(ITGA7):c.1592_1593delinsGG (p.Asp531Gly)	ITGA7 (D418G +12 more)	Indel (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2689261	NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)	ITGA7 (I1001L +13 more)	Inversion (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2689260	NM_002206.3(ITGA7):c.944G>C (p.Arg315Pro)	ITGA7 (R202P +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2643063	NM_002206.3(ITGA7):c.671-401C>T	ITGA7 (T112M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643062	NM_002206.3(ITGA7):c.671-295G>A	ITGA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2628803	NM_002206.3(ITGA7):c.1410-3C>G	ITGA7	Single nucleotide variant (intron variant)	ITGA7-related disorder	GUncertain significance
Select item 2612641	NM_002206.3(ITGA7):c.374G>A (p.Gly125Glu)	ITGA7 (G12E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608957	NM_002206.3(ITGA7):c.1769T>C (p.Val590Ala)	ITGA7 (V142A +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604556	NM_002206.3(ITGA7):c.10G>A (p.Ala4Thr)	ITGA7 (A4T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2602857	NM_002206.3(ITGA7):c.3133G>A (p.Val1045Ile)	ITGA7 (V1005I +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581288	NM_002206.3(ITGA7):c.3184-16C>G	ITGA7	Single nucleotide variant (intron variant)	not specified	GLikely benign

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