Related gene-specific medical variations for Gene (Select 4640) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689512	NM_005379.4(MYO1A):c.58G>A (p.Val20Met)	MYO1A (V20M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2615517	NM_005379.4(MYO1A):c.352G>A (p.Val118Met)	LOC126861538, MYO1A (V118M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349668	NM_005379.4(MYO1A):c.247G>A (p.Val83Met)	LOC126861538, MYO1A (V83M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328485	NM_005379.4(MYO1A):c.358G>C (p.Ala120Pro)	LOC126861538, MYO1A (A120P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701204	NM_005379.4(MYO1A):c.278G>A (p.Arg93Gln)	LOC126861538, MYO1A (R93Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1278954	NM_005379.4(MYO1A):c.2350-188G>A	LOC130008108, MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 618239	NM_005379.4(MYO1A):c.103_105del (p.Lys35del)	MYO1A (K35del)	Deletion (inframe_deletion)	not provided	GBenign
Select item 309921	NM_005379.4(MYO1A):c.340G>A (p.Val114Met)	LOC126861538, MYO1A (V114M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309920	NM_005379.4(MYO1A):c.478-25CT[4]	LOC126861538, MYO1A	Microsatellite (intron variant)	Nonsyndromic Hearing Loss, Dominant	GLikely benign
Select item 287283	NM_005379.4(MYO1A):c.250G>A (p.Ala84Thr)	LOC126861538, MYO1A (A84T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226408	NM_005379.4(MYO1A):c.235G>T (p.Ala79Ser)	MYO1A, LOC126861538 (A79S)	Single nucleotide variant (missense variant)	MYO1A-related condition	GBenign
Select item 178456	NM_005379.4(MYO1A):c.376G>A (p.Glu126Lys)	LOC126861538, MYO1A (E126K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 164600	NM_005379.4(MYO1A):c.221A>C (p.Lys74Thr)	LOC126861538, MYO1A (K74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 164599	NM_005379.4(MYO1A):c.522C>T (p.Leu174=)	LOC126861538, MYO1A	Single nucleotide variant (synonymous variant)	Nonsyndromic Hearing Loss, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 164598	NM_005379.4(MYO1A):c.541+12C>T	LOC126861538, MYO1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 161632	NM_005379.4(MYO1A):c.2887G>A (p.Val963Met)	MYO1A (V963M)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 8147	NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup)	LOC126861538, MYO1A	Duplication (inframe_insertion)	Autosomal dominant nonsyndromic hearing loss 48	GUncertain significance
Select item 8146	NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)	LOC126861538, MYO1A (R93*)	Single nucleotide variant (nonsense)	MYO1A-related condition +2 more	GConflicting classifications of pathogenicity