"Eurofins Ntd Llc (ga)"[submitter] AND "ITGA7"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 287906	NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met)	ITGA7 (T1003M +13 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 94043	NM_002206.3(ITGA7):c.3184-12G>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 286339	NM_002206.3(ITGA7):c.3150G>T (p.Leu1050=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GBenign/Likely benign
Select item 387004	NM_002206.3(ITGA7):c.3058-6C>T	ITGA7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 94042	NM_002206.3(ITGA7):c.2710C>T (p.Leu904=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 211211	NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)	ITGA7 (I901V +13 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 94041	NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)	ITGA7 (E857K +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 195481	NM_002206.3(ITGA7):c.2642T>A (p.Val881Asp)	ITGA7 (V881D +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 94040	NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)	ITGA7 (G857S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 498597	NM_002206.3(ITGA7):c.2535+5G>C	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 94039	NM_002206.3(ITGA7):c.2433-5G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 194941	NM_002206.3(ITGA7):c.2433-6C>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 258584	NM_002206.3(ITGA7):c.2295C>T (p.Ile765=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194731	NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val)	ITGA7, LOC126861535 (I765V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 94038	NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu)	ITGA7, LOC126861535 (S696L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 287413	NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met)	ITGA7, LOC126861535 (L679M +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 94037	NM_002206.3(ITGA7):c.2004-19G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 94036	NM_002206.3(ITGA7):c.1965T>C (p.Cys655=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 94035	NM_002206.3(ITGA7):c.1952G>A (p.Arg651His)	ITGA7 (R651H +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 283878	NM_002206.3(ITGA7):c.1854C>T (p.Leu618=)	ITGA7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 284004	NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg)	ITGA7 (G610R +12 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 194205	NM_002206.3(ITGA7):c.1771G>A (p.Val591Met)	ITGA7 (V591M +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 94034	NM_002206.3(ITGA7):c.1765A>C (p.Ile589Leu)	ITGA7 (I589L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 194044	NM_002206.3(ITGA7):c.1722C>A (p.Ala574=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 94033	NM_002206.3(ITGA7):c.1659C>G (p.Pro553=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 194046	NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)	ITGA7 (L536F +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 94032	NM_002206.3(ITGA7):c.1589C>T (p.Ala530Val)	ITGA7 (A530V +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 194045	NM_002206.3(ITGA7):c.1568-9A>G	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 193638	NM_002206.3(ITGA7):c.1410-3del	ITGA7	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 199075	NM_002206.3(ITGA7):c.1317C>T (p.Phe439=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 94031	NM_002206.3(ITGA7):c.1282-11T>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 285092	NM_002206.3(ITGA7):c.1008C>T (p.Asp336=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign/Likely benign
Select item 198478	NM_002206.3(ITGA7):c.999-4A>G	ITGA7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 198147	NM_002206.3(ITGA7):c.892C>T (p.Arg298Cys)	ITGA7 (R298C +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 258589	NM_002206.3(ITGA7):c.882G>A (p.Val294=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign/Likely benign
Select item 94047	NM_002206.3(ITGA7):c.824G>A (p.Arg275His)	ITGA7 (R275H +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 94046	NM_002206.3(ITGA7):c.810G>A (p.Gly270=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 211212	NM_002206.3(ITGA7):c.791-7C>T	ITGA7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 283893	NM_002206.3(ITGA7):c.708C>A (p.Pro236=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 197739	NM_002206.3(ITGA7):c.671-5C>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign/Likely benign
Select item 285428	NM_002206.3(ITGA7):c.656C>T (p.Thr219Ile)	ITGA7 (T219I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 287417	NM_002206.3(ITGA7):c.537G>A (p.Gly179=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 498595	NM_002206.3(ITGA7):c.518G>A (p.Arg173Gln)	ITGA7 (R173Q +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 94045	NM_002206.3(ITGA7):c.415-10C>T	ITGA7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 94044	NM_002206.3(ITGA7):c.334+19A>G	ITGA7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 284994	NM_002206.3(ITGA7):c.287T>G (p.Leu96Trp)	ITGA7 (L96W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 499560	NM_002206.3(ITGA7):c.284C>T (p.Pro95Leu)	ITGA7 (P95L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 193222	NM_002206.3(ITGA7):c.128G>T (p.Arg43Leu)	ITGA7 (R43L)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance

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Items: 49