Related gene-specific medical variations for Gene (Select 121852992) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013595	NM_001145809.2(MYH14):c.918G>A (p.Glu306=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011757	NM_001145809.2(MYH14):c.912G>A (p.Lys304=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004449	NM_001145809.2(MYH14):c.945G>A (p.Leu315=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975665	NM_001145809.2(MYH14):c.967C>T (p.Leu323Phe)	LOC121852992, MYH14 (L315F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794015	NM_001145809.2(MYH14):c.876C>T (p.Tyr292=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2739272	NM_001145809.2(MYH14):c.973+8C>G	LOC121852992, MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720312	NM_001145809.2(MYH14):c.950G>C (p.Gly317Ala)	LOC121852992, MYH14 (G309A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501479	NM_001145809.2(MYH14):c.911A>G (p.Lys304Arg)	LOC121852992, MYH14 (K296R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961763	NM_001145809.2(MYH14):c.901C>T (p.Arg301Cys)	LOC121852992, MYH14 (R301C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959112	NM_001145809.2(MYH14):c.973+16T>C	LOC121852992, MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1800778	NM_001145809.2(MYH14):c.945G>T (p.Leu315=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1208633	NM_001145809.2(MYH14):c.875-11G>A	LOC121852992, MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 893859	NM_001145809.2(MYH14):c.909C>T (p.Ala303=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GConflicting classifications of pathogenicity
Select item 164169	NM_001145809.2(MYH14):c.949G>A (p.Gly317Arg)	LOC121852992, MYH14 (G317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance