3679[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 776716	NM_152637.3(TMT1B):c.670C>T (p.Arg224Ter)	ITGA7, TMT1B (R224*)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GBenign
Select item 309775	NM_002206.3(ITGA7):c.*171del	ITGA7	Deletion (3 prime UTR variant)	Congenital Muscular Dystrophy, ITGA7-related	GUncertain significance
Select item 1410264	NM_002206.3(ITGA7):c.3409G>A (p.Ala1137Thr)	ITGA7 (A1044T +13 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1152828	NM_002206.3(ITGA7):c.3405C>G (p.Gly1135=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1621350	NM_002206.3(ITGA7):c.3396A>G (p.Pro1132=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1921799	NM_002206.3(ITGA7):c.3394C>G (p.Pro1132Ala)	ITGA7 (P1176A +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 537987	NM_002206.3(ITGA7):c.3388G>A (p.Gly1130Arg)	ITGA7 (G1130R +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1132151	NM_002206.3(ITGA7):c.3387T>C (p.Asp1129=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1037648	NM_002206.3(ITGA7):c.3385G>A (p.Asp1129Asn)	ITGA7 (D1123N +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 129297	NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=)	ITGA7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 850369	NM_002206.3(ITGA7):c.3373G>A (p.Glu1125Lys)	ITGA7 (E1032K +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 578833	NM_002206.3(ITGA7):c.3373G>C (p.Glu1125Gln)	ITGA7 (E1032Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 387547	NM_002206.3(ITGA7):c.3372C>T (p.Pro1124=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GLikely benign
Select item 1417080	NM_002206.3(ITGA7):c.3364G>A (p.Gly1122Arg)	ITGA7 (G674R +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 507224	NM_002206.3(ITGA7):c.3363C>T (p.Asp1121=)	ITGA7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1946520	NM_002206.3(ITGA7):c.3355G>A (p.Ala1119Thr)	ITGA7 (A1044T +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 960657	NM_002206.3(ITGA7):c.3353T>C (p.Leu1118Pro)	ITGA7 (L1009P +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2050030	NM_002206.3(ITGA7):c.3349A>G (p.Ile1117Val)	ITGA7 (I1077V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 684476	NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu)	ITGA7 (I1008L +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579301	NM_002206.3(ITGA7):c.3348C>G (p.Pro1116=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 793160	NM_002206.3(ITGA7):c.3348C>T (p.Pro1116=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1149459	NM_002206.3(ITGA7):c.3342A>C (p.Ala1114=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1123886	NM_002206.3(ITGA7):c.3336G>A (p.Pro1112=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1040833	NM_002206.3(ITGA7):c.3335C>G (p.Pro1112Arg)	ITGA7 (P1019R +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 863339	NM_002206.3(ITGA7):c.3335C>T (p.Pro1112Leu)	ITGA7 (P1112L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1421139	NM_002206.3(ITGA7):c.3316_3325del (p.Ser1106fs)	ITGA7 (S1013fs +5 more)	Deletion (frameshift variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 309777	NM_002206.3(ITGA7):c.3325C>T (p.Arg1109Trp)	ITGA7 (R1016W +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 435533	NM_002206.3(ITGA7):c.3323G>A (p.Arg1108Gln)	ITGA7 (R1015Q +13 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 657949	NM_002206.3(ITGA7):c.3322C>T (p.Arg1108Trp)	ITGA7 (R660W +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 1561134	NM_002206.3(ITGA7):c.3321C>A (p.Pro1107=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1492138	NM_002206.3(ITGA7):c.3318C>G (p.Ser1106Arg)	ITGA7 (S1100R +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 772173	NM_002206.3(ITGA7):c.3318C>T (p.Ser1106=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1163534	NM_002206.3(ITGA7):c.3309C>G (p.Asn1103Lys)	ITGA7 (N1010K +13 more)	Single nucleotide variant (missense variant)	ITGA7-related disorder +2 more	GUncertain significance
Select item 569490	NM_002206.3(ITGA7):c.3299T>C (p.Leu1100Pro)	ITGA7 (L1007P +13 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 287906	NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met)	ITGA7 (T1003M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 470579	NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)	ITGA7 (Q997* +13 more)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 1120695	NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln)	ITGA7 (R1082Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GConflicting classifications of pathogenicity
Select item 1040572	NM_002206.3(ITGA7):c.3254G>A (p.Arg1085Gln)	ITGA7 (R637Q +13 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 851657	NM_002206.3(ITGA7):c.3253C>T (p.Arg1085Trp)	ITGA7 (R1089W +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1969721	NM_002206.3(ITGA7):c.3247A>T (p.Ile1083Phe)	ITGA7 (I1054F +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2148322	NM_002206.3(ITGA7):c.3239C>T (p.Ala1080Val)	ITGA7 (A1040V +13 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1553702	NM_002206.3(ITGA7):c.3237T>C (p.His1079=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 960096	NM_002206.3(ITGA7):c.3236A>G (p.His1079Arg)	ITGA7 (H1083R +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2088617	NM_002206.3(ITGA7):c.3235C>T (p.His1079Tyr)	ITGA7 (H1050Y +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1348488	NM_002206.3(ITGA7):c.3233A>G (p.Tyr1078Cys)	ITGA7 (Y985C +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 793157	NM_002206.3(ITGA7):c.3225G>T (p.Val1075=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1052190	NM_002206.3(ITGA7):c.3223G>A (p.Val1075Met)	ITGA7 (V1069M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1146386	NM_002206.3(ITGA7):c.3222C>T (p.Thr1074=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 2081208	NM_002206.3(ITGA7):c.3221C>T (p.Thr1074Ile)	ITGA7 (T1013I +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1415935	NM_002206.3(ITGA7):c.3218C>A (p.Ala1073Asp)	ITGA7 (A1067D +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1573324	NM_002206.3(ITGA7):c.3213C>T (p.Pro1071=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1131595	NM_002206.3(ITGA7):c.3210C>T (p.His1070=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1632445	NM_002206.3(ITGA7):c.3204G>A (p.Ala1068=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 470578	NM_002206.3(ITGA7):c.3203C>T (p.Ala1068Val)	ITGA7 (A1068V +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 451131	NM_002206.3(ITGA7):c.3200G>A (p.Arg1067Gln)	ITGA7 (R1067Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 1468094	NM_002206.3(ITGA7):c.3199C>T (p.Arg1067Trp)	ITGA7 (R619W +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1541020	NM_002206.3(ITGA7):c.3189A>T (p.Gly1063=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1499595	NM_002206.3(ITGA7):c.3184-3T>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
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 1665845	NM_002206.3(ITGA7):c.3184-6T>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 961126	NM_002206.3(ITGA7):c.3184-6T>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 94043	NM_002206.3(ITGA7):c.3184-12G>C	ITGA7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2581288	NM_002206.3(ITGA7):c.3184-16C>G	ITGA7	Single nucleotide variant (intron variant)	not specified	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 1199498	NM_002206.3(ITGA7):c.3184-103C>T	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683647	NM_002206.3(ITGA7):c.3184-286T>A	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677685	NM_002206.3(ITGA7):c.3183+244A>G	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2142819	NM_002206.3(ITGA7):c.3183+20C>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1664118	NM_002206.3(ITGA7):c.3183+15_3183+17del	ITGA7	Deletion (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 1648264	NM_002206.3(ITGA7):c.3183+17G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 309778	NM_002206.3(ITGA7):c.3174C>T (p.Leu1058=)	ITGA7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1365479	NM_002206.3(ITGA7):c.3169C>A (p.Leu1057Met)	ITGA7 (L1061M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1054462	NM_002206.3(ITGA7):c.3166G>C (p.Val1056Leu)	ITGA7 (V1050L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1665720	NM_002206.3(ITGA7):c.3160C>T (p.Leu1054=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
Select item 960133	NM_002206.3(ITGA7):c.3158C>T (p.Ala1053Val)	ITGA7 (A1047V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 863712	NM_002206.3(ITGA7):c.3158C>G (p.Ala1053Gly)	ITGA7 (A1047G +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 286339	NM_002206.3(ITGA7):c.3150G>T (p.Leu1050=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 129296	NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 1900184	NM_002206.3(ITGA7):c.3118G>C (p.Val1040Leu)	ITGA7 (V1011L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 423926	NM_002206.3(ITGA7):c.3118G>T (p.Val1040Phe)	ITGA7 (V1040F +13 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 1595496	NM_002206.3(ITGA7):c.3108G>A (p.Val1036=)	ITGA7	Single nucleotide variant (synonymous variant)	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 1698314	NM_002206.3(ITGA7):c.3082C>T (p.Pro1028Ser)	ITGA7 (P1022S +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 936675	NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter)	ITGA7 (Y1019* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic/Likely pathogenic
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 576887	NM_002206.3(ITGA7):c.3064G>C (p.Val1022Leu)	ITGA7 (V1022L +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 538007	NM_002206.3(ITGA7):c.3058-5C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely benign
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 387004	NM_002206.3(ITGA7):c.3058-6C>T	ITGA7	Single nucleotide variant (intron variant)	ITGA7-related disorder +3 more	GBenign/Likely benign
Select item 2028623	NM_002206.3(ITGA7):c.3058-9G>A	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 2417982	NM_002206.3(ITGA7):c.3058-20A>G	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

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