ClinVar for MedGen (Select 322209) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 250

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250386	NM_001145809.2(MYH14):c.693+1G>A	MYH14	Single nucleotide variant (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 4A	GLikely pathogenic
Select item 3250385	NM_001145809.2(MYH14):c.1368C>G (p.Tyr456Ter)	MYH14 (Y448* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 4A	GPathogenic
Select item 3250384	NM_001145809.2(MYH14):c.587G>T (p.Cys196Phe)	MYH14 (C196F)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GLikely pathogenic
Select item 2671692	NM_001145809.2(MYH14):c.5981C>A (p.Thr1994Asn)	MYH14 (T1953N +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 2505166	NM_001145809.2(MYH14):c.5380G>A (p.Gly1794Arg)	MYH14 (G1753R +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 2505165	NM_001145809.2(MYH14):c.571G>A (p.Asp191Asn)	MYH14 (D191N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GLikely pathogenic
Select item 2505164	NM_001145809.2(MYH14):c.571G>C (p.Asp191His)	MYH14 (D191H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GLikely pathogenic
Select item 2505163	NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp)	MYH14 (R183W)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 1805739	NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)	MYH14 (L937P +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	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 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 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 1217467	NM_001145809.2(MYH14):c.1067C>T (p.Thr356Met)	MYH14 (T348M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GConflicting classifications of pathogenicity
Select item 1185649	NM_001145809.2(MYH14):c.5990del (p.Thr1997fs)	MYH14 (T1956fs +2 more)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 4A	GPathogenic
Select item 1034065	NM_001145809.2(MYH14):c.491G>C (p.Gly164Ala)	MYH14 (G164A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	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 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 894747	NM_001145809.2(MYH14):c.10G>A (p.Val4Met)	MYH14 (V4M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894746	NM_001145809.2(MYH14):c.-15C>G	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894417	NM_001145809.2(MYH14):c.*155T>C	MYH14	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894378	NM_001145809.2(MYH14):c.5303G>A (p.Arg1768Gln)	MYH14 (R1768Q +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894377	NM_001145809.2(MYH14):c.5284C>T (p.Arg1762Trp)	MYH14 (R1729W +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894376	NM_001145809.2(MYH14):c.5133G>C (p.Gln1711His)	MYH14 (Q1670H +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894346	NM_001145809.2(MYH14):c.4164G>A (p.Ala1388=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894345	NM_001145809.2(MYH14):c.4059G>A (p.Ala1353=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894344	NM_001145809.2(MYH14):c.3973C>T (p.Arg1325Trp)	MYH14 (R1325W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 894282	NM_001145809.2(MYH14):c.2257G>T (p.Val753Leu)	MYH14 (V753L +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894281	NM_001145809.2(MYH14):c.2251C>T (p.Arg751Trp)	MYH14 (R710W +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894280	NM_001145809.2(MYH14):c.2248C>G (p.Pro750Ala)	MYH14 (P709A +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 894015	NM_001145809.2(MYH14):c.*86G>A	MYH14	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GLikely benign
Select item 894014	NM_001145809.2(MYH14):c.5987G>A (p.Arg1996His)	MYH14 (R1996H +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 894013	NM_001145809.2(MYH14):c.5965G>C (p.Gly1989Arg)	MYH14 (G1948R +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894012	NM_001145809.2(MYH14):c.5961-4A>C	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893979	NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys)	MYH14 (E1594K +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 893978	NM_001145809.2(MYH14):c.4778G>A (p.Arg1593Gln)	MYH14 (R1552Q +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893947	NM_001145809.2(MYH14):c.3883C>T (p.Arg1295Trp)	MYH14 (R1254W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 893946	NM_001145809.2(MYH14):c.3868G>A (p.Glu1290Lys)	MYH14 (E1249K +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893920	NM_001145809.2(MYH14):c.2988C>T (p.Ser996=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	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 893889	NM_001145809.2(MYH14):c.2114G>A (p.Arg705Gln)	MYH14 (R672Q +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 893888	NM_001145809.2(MYH14):c.1843G>T (p.Ala615Ser)	MYH14 (A615S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 893859	NM_001145809.2(MYH14):c.909C>T (p.Ala303=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893858	NM_001145809.2(MYH14):c.825C>T (p.Arg275=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893827	NM_001145809.2(MYH14):c.-17G>T	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893826	NM_001145809.2(MYH14):c.-31C>T	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893825	NM_001145809.2(MYH14):c.-48C>T	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893713	NM_001145809.2(MYH14):c.4669C>T (p.Arg1557Cys)	MYH14 (R1516C +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GConflicting classifications of pathogenicity
Select item 893712	NM_001145809.2(MYH14):c.4666G>A (p.Ala1556Thr)	MYH14 (A1515T +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 893711	NM_001145809.2(MYH14):c.4645G>A (p.Ala1549Thr)	MYH14 (A1549T +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893710	NM_001145809.2(MYH14):c.4624C>T (p.Arg1542Trp)	MYH14 (R1509W +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893670	NM_001145809.2(MYH14):c.3772C>T (p.Arg1258Cys)	MYH14 (R1258C +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 893669	NM_001145809.2(MYH14):c.3648G>A (p.Thr1216=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893668	NM_001145809.2(MYH14):c.3603C>T (p.Asp1201=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GConflicting classifications of pathogenicity
Select item 893635	NM_001145809.2(MYH14):c.2645C>T (p.Ala882Val)	MYH14 (A882V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 893633	NM_001145809.2(MYH14):c.2544C>T (p.Ile848=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GLikely benign
Select item 893632	NM_001145809.2(MYH14):c.2505G>A (p.Gln835=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893603	NM_001145809.2(MYH14):c.1833C>T (p.Val611=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GConflicting classifications of pathogenicity
Select item 893602	NM_001145809.2(MYH14):c.1657-7T>C	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893601	NM_001145809.2(MYH14):c.1586A>C (p.Glu529Ala)	MYH14 (E529A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893567	NM_001145809.2(MYH14):c.652G>A (p.Val218Met)	MYH14 (V218M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893566	NM_001145809.2(MYH14):c.595G>C (p.Glu199Gln)	MYH14 (E199Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893565	NM_001145809.2(MYH14):c.560A>G (p.Gln187Arg)	MYH14 (Q187R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 893564	NM_001145809.2(MYH14):c.559C>A (p.Gln187Lys)	MYH14 (Q187K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893200	NM_001145809.2(MYH14):c.*738C>T	MYH14	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893199	NM_001145809.2(MYH14):c.*604G>A	MYH14	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893169	NM_001145809.2(MYH14):c.5850G>A (p.Glu1950=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 892975	NM_001145809.2(MYH14):c.*427T>C	MYH14	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GLikely benign
Select item 892974	NM_001145809.2(MYH14):c.*368C>G	MYH14	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GLikely benign
Select item 892935	NM_001145809.2(MYH14):c.5534G>A (p.Arg1845Gln)	MYH14 (R1804Q +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GUncertain significance
Select item 892934	NM_001145809.2(MYH14):c.5384G>T (p.Arg1795Leu)	MYH14 (R1762L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 892901	NM_001145809.2(MYH14):c.4585C>T (p.Arg1529Cys)	MYH14 (R1496C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892900	NM_001145809.2(MYH14):c.4510C>T (p.Leu1504=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 892899	NM_001145809.2(MYH14):c.4212C>T (p.Ala1404=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 892856	NM_001145809.2(MYH14):c.3490C>A (p.Arg1164=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 892855	NM_001145809.2(MYH14):c.3434G>A (p.Arg1145Gln)	MYH14 (R1104Q +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GUncertain significance
Select item 892829	NM_001145809.2(MYH14):c.2429A>C (p.Gln810Pro)	MYH14 (Q777P +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 892828	NM_001145809.2(MYH14):c.2383C>A (p.Pro795Thr)	MYH14 (P754T +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 892827	NM_001145809.2(MYH14):c.2331C>T (p.Ile777=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892799	NM_001145809.2(MYH14):c.1368C>T (p.Tyr456=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 892798	NM_001145809.2(MYH14):c.1329+7G>A	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +1 more	GConflicting classifications of pathogenicity
Select item 892797	NM_001145809.2(MYH14):c.1229G>A (p.Arg410His)	MYH14 (R402H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892796	NM_001145809.2(MYH14):c.1160C>T (p.Ala387Val)	MYH14 (A387V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 892760	NM_001145809.2(MYH14):c.393C>T (p.Ser131=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892759	NM_001145809.2(MYH14):c.263G>A (p.Arg88Gln)	MYH14 (R88Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GLikely benign
Select item 892758	NM_001145809.2(MYH14):c.204G>A (p.Ala68=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 892757	NM_001145809.2(MYH14):c.192G>A (p.Gly64=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 873466	NM_001145809.2(MYH14):c.6065G>C (p.Gly2022Ala)	MYH14 (G1981A +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 811667	NM_001145809.2(MYH14):c.4156A>T (p.Thr1386Ser)	MYH14 (T1345S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GUncertain significance
Select item 805063	NM_001145809.2(MYH14):c.1834G>A (p.Asp612Asn)	MYH14 (D612N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 793491	NM_001145809.2(MYH14):c.3303A>G (p.Leu1101=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 732741	NM_001145809.2(MYH14):c.3467+9T>G	MYH14	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 731851	NM_001145809.2(MYH14):c.1133C>T (p.Ser378Leu)	MYH14 (S370L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 666718	NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu)	MYH14 (S665L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GConflicting classifications of pathogenicity
Select item 638051	NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys)	MYH14 (E932K +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance

<< First< Prev

Page of 3