ClinVar for MedGen (Select 482186) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377679	NM_001145809.2(MYH14):c.3296-1G>C	MYH14	Single nucleotide variant (splice acceptor variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 2442011	NM_001145809.2(MYH14):c.3820C>T (p.Arg1274Trp)	MYH14 (R1233W +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 1992358	NM_001145809.2(MYH14):c.6034G>A (p.Glu2012Lys)	MYH14 (E2012K +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 1992357	NM_001145809.2(MYH14):c.5368C>T (p.Arg1790Cys)	MYH14 (R1749C +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 1805908	NM_001145809.2(MYH14):c.2929G>C (p.Glu977Gln)	MYH14 (E936Q +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 1709902	NM_001145809.2(MYH14):c.2272C>G (p.Arg758Gly)	MYH14 (R717G +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 1679157	NM_001145809.2(MYH14):c.3457G>A (p.Ala1153Thr)	MYH14 (A1112T +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 1651981	NM_001145809.2(MYH14):c.563-17C>A	MYH14	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1476426	NM_001145809.2(MYH14):c.500G>A (p.Arg167His)	MYH14 (R167H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1307875	NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu)	MYH14 (P536L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1299687	NM_001145809.2(MYH14):c.5848G>A (p.Glu1950Lys)	MYH14 (E1909K +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 1295290	NM_001145809.2(MYH14):c.3681-26A>T	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 1235262	NM_001145809.2(MYH14):c.2694+30T>C	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 1221997	NM_001145809.2(MYH14):c.5788-41A>G	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 1034066	NM_001145809.2(MYH14):c.5469+13del	MYH14	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1034064	NM_001145809.2(MYH14):c.4761G>A (p.Glu1587=)	MYH14	Single nucleotide variant (synonymous variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 1033647	NM_001145809.2(MYH14):c.1049G>A (p.Arg350Gln)	MYH14 (R342Q +1 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +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)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GUncertain significance
Select item 972933	NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro)	MYH14 (L801P +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	Gnot provided
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
Select item 931550	NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)	MYH14 (H2034P +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +2 more	GUncertain significance
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 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 930417	NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp)	MYH14 (R1720W +2 more)	Single nucleotide variant (missense variant)	not provided +1 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 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 893919	NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met)	MYH14 (T926M +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +2 more	GConflicting classifications of pathogenicity
Select item 893634	NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)	MYH14 (R867C +2 more)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GConflicting classifications of pathogenicity
Select item 892933	NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His)	MYH14 (R1762H +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +2 more	GUncertain significance
Select item 816784	NM_001145809.2(MYH14):c.5986C>T (p.Arg1996Cys)	MYH14 (R1955C +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 816783	NM_001145809.2(MYH14):c.4693C>T (p.Arg1565Trp)	MYH14 (R1565W +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 634625	NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser)	MYH14 (A480S +1 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +1 more	GUncertain significance
Select item 587536	NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp)	MYH14 (G660D)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 329946	NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys)	MYH14 (E1681K +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +2 more	GConflicting classifications of pathogenicity
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 329934	NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)	MYH14 (R1243W +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GConflicting classifications of pathogenicity
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 287599	NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)	MYH14 (A770V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 257578	NM_001145809.2(MYH14):c.5469+16C>T	MYH14	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 257574	NM_001145809.2(MYH14):c.2355-17C>T	MYH14	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 226747	NM_001145809.2(MYH14):c.5678+12C>T	MYH14	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 179510	NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His)	MYH14 (R1363H +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +4 more	GUncertain significance
Select item 179004	NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys)	MYH14 (Y434C +1 more)	Single nucleotide variant (missense variant)	not provided +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 44079	NM_001145809.2(MYH14):c.657G>A (p.Ala219=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GBenign
Select item 44075	NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GBenign
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 44063	NM_001145809.2(MYH14):c.3033+11T>C	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GBenign
Select item 44062	NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 44060	NM_001145809.2(MYH14):c.2827-9A>C	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GBenign
Select item 44057	NM_001145809.2(MYH14):c.2355-14C>T	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GBenign
Select item 44056	NM_001145809.2(MYH14):c.2250A>G (p.Pro750=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 44055	NM_001145809.2(MYH14):c.2205C>G (p.Arg735=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GBenign
Select item 44044	NM_001145809.2(MYH14):c.1114+13C>T	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GBenign
Select item 30739	NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)	MYH14 (R941L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2199	NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)	MYH14 (G376C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 57