"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930985	NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser)	MYH14 (P31S)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 374064	NM_001145809.2(MYH14):c.1945+6G>A	MYH14	Single nucleotide variant (intron variant)	EMG abnormality +7 more	GUncertain significance
Select item 930364	NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp)	MYH14 (R742W +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 893634	NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)	MYH14 (R867C +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +3 more	GConflicting classifications of pathogenicity
Select item 931005	NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys)	MYH14 (E1495K +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 373967	NM_001145809.2(MYH14):c.5105T>C (p.Val1702Ala)	MYH14 (V1702A +2 more)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 930417	NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp)	MYH14 (R1720W +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +1 more	GUncertain significance
Select item 930261	NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro)	MYH14 (A2033P +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 931550	NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)	MYH14 (H2034P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 932016	NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs)	MYH14 (Q1995fs +2 more)	Deletion (frameshift variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance