"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ITGA7"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1059395	NM_002206.3(ITGA7):c.2908G>A (p.Ala970Thr)	ITGA7 (A522T +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 957123	NM_002206.3(ITGA7):c.2024C>G (p.Ala675Gly)	ITGA7, LOC126861535 (A566G +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 470570	NM_002206.3(ITGA7):c.1879C>T (p.Arg627Trp)	ITGA7 (R627W +12 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3380108	NM_002206.3(ITGA7):c.911G>T (p.Arg304Leu)	ITGA7 (R191L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 538001	NM_002206.3(ITGA7):c.799A>G (p.Ile267Val)	ITGA7 (I267V +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 537988	NM_002206.3(ITGA7):c.671G>C (p.Gly224Ala)	ITGA7 (G224A +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 3381089	NM_002206.3(ITGA7):c.253del (p.Ala85fs)	ITGA7 (A85fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic