ClinVar for OMIM (Select 613204) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	ITGA7, LOC126861535 (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 (synonymous 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 (synonymous 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 (synonymous 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 (synonymous 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 2432919	NM_002206.3(ITGA7):c.1465G>A (p.Asp489Asn)	ITGA7 (D376N +10 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2432917	NM_002206.3(ITGA7):c.1793A>C (p.Gln598Pro)	ITGA7 (Q150P +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432916	NM_002206.3(ITGA7):c.3113G>T (p.Trp1038Leu)	ITGA7 (W1009L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432915	NM_002206.3(ITGA7):c.1238T>A (p.Ile413Asn)	ITGA7 (I300N +9 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432914	NM_002206.3(ITGA7):c.680T>G (p.Phe227Cys)	ITGA7 (F114C +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432911	NM_002206.3(ITGA7):c.1127C>T (p.Ser376Phe)	ITGA7 (S263F +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432910	NM_002206.3(ITGA7):c.1087G>C (p.Gly363Arg)	ITGA7 (G250R +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432908	NM_002206.3(ITGA7):c.943C>T (p.Arg315Cys)	ITGA7 (R202C +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432906	NM_002206.3(ITGA7):c.2286C>A (p.Phe762Leu)	ITGA7, LOC126861535 (F314L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432905	NM_002206.3(ITGA7):c.3060C>G (p.Ile1020Met)	ITGA7 (I1014M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432904	NM_002206.3(ITGA7):c.2121T>G (p.Asp707Glu)	ITGA7, LOC126861535 (D259E +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432903	NM_002206.3(ITGA7):c.1499C>G (p.Ser500Trp)	ITGA7 (S387W +10 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432901	NM_002206.3(ITGA7):c.1568C>G (p.Ala523Gly)	ITGA7 (A410G +10 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 2432900	NM_002206.3(ITGA7):c.253G>A (p.Ala85Thr)	ITGA7 (A85T)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432898	NM_002206.3(ITGA7):c.1064T>G (p.Val355Gly)	ITGA7 (V242G +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432897	NM_002206.3(ITGA7):c.2996G>A (p.Arg999Gln)	ITGA7 (R1003Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432896	NM_002206.3(ITGA7):c.832G>A (p.Glu278Lys)	ITGA7 (E165K +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432895	NM_002206.3(ITGA7):c.2053A>G (p.Ile685Val)	ITGA7, LOC126861535 (I237V +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432893	NM_002206.3(ITGA7):c.380G>C (p.Ser127Thr)	ITGA7 (S127T +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432892	NM_002206.3(ITGA7):c.2980C>G (p.Leu994Val)	ITGA7 (L1038V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432891	NM_002206.3(ITGA7):c.2813C>G (p.Ser938Cys)	ITGA7 (S490C +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432889	NM_002206.3(ITGA7):c.2281A>G (p.Thr761Ala)	ITGA7, LOC126861535 (T313A +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 2428251	NM_002206.3(ITGA7):c.2229C>T (p.Ala743=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2427993	NM_002206.3(ITGA7):c.861C>T (p.Arg287=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2426639	NM_002206.3(ITGA7):c.1A>G (p.Met1Val)	ITGA7 (M1V)	Single nucleotide variant (missense variant +3 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2424369	NC_000012.11:g.(?_56091458)_(56093230_?)del	ITGA7	Deletion	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic
Select item 2422071	NM_002206.3(ITGA7):c.3055G>C (p.Val1019Leu)	ITGA7 (V1013L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2420963	NM_002206.3(ITGA7):c.2466T>A (p.Gly822=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign

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