"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MYH14"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1651981	NM_001145809.2(MYH14):c.563-17C>A	MYH14	Single nucleotide variant (intron variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +2 more	GBenign/Likely benign
Select item 179004	NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys)	MYH14 (Y434C +1 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +3 more	GLikely benign
Select item 178415	NM_001145809.2(MYH14):c.1329+15C>T	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GBenign/Likely benign
Select item 1307875	NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu)	MYH14 (P536L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 329926	NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 44064	NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp)	MYH14 (R1102W +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GConflicting classifications of pathogenicity
Select item 1310805	NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln)	MYH14 (R1233Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 329936	NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys)	MYH14 (R1264C +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 892933	NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His)	MYH14 (R1762H +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 995696	NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp)	MYH14 (R1918W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance