"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYH14"[ge - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44065	NM_001145809.2(MYH14):c.33G>C (p.Arg11=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 329904	NM_001145809.2(MYH14):c.36G>A (p.Lys12=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder +2 more	GBenign/Likely benign
Select item 1308322	NM_001145809.2(MYH14):c.68C>T (p.Ala23Val)	MYH14 (A23V)	Single nucleotide variant (missense variant)	MYH14-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 44081	NM_001145809.2(MYH14):c.91C>A (p.Pro31Thr)	MYH14 (P31T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 44052	NM_001145809.2(MYH14):c.192G>T (p.Gly64=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2200	NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu)	MYH14 (S120L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178410	NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)	MYH14 (G132S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GConflicting classifications of pathogenicity
Select item 44071	NM_001145809.2(MYH14):c.474T>C (p.Ile158=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 329907	NM_001145809.2(MYH14):c.543C>T (p.Ala181=)	MYH14	Single nucleotide variant (synonymous variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 44079	NM_001145809.2(MYH14):c.657G>A (p.Ala219=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 164165	NM_001145809.2(MYH14):c.660G>T (p.Ser220=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 726155	NM_001145809.2(MYH14):c.693+10C>T	MYH14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 227572	NM_001145809.2(MYH14):c.1026G>A (p.Pro342=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 178414	NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys)	MYH14 (S345C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 44044	NM_001145809.2(MYH14):c.1114+13C>T	MYH14	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 731851	NM_001145809.2(MYH14):c.1133C>T (p.Ser378Leu)	MYH14 (S370L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 44046	NM_001145809.2(MYH14):c.1149T>C (p.Phe383=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 227573	NM_001145809.2(MYH14):c.1155C>T (p.Asn385=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 929974	NM_001145809.2(MYH14):c.1251G>A (p.Thr417=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 289897	NM_001145809.2(MYH14):c.1436C>A (p.Ala479Asp)	MYH14 (A479D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44049	NM_001145809.2(MYH14):c.1483-10G>A	MYH14	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2629083	NM_001145809.2(MYH14):c.1715C>T (p.Thr572Ile)	MYH14 (T564I +1 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 44050	NM_001145809.2(MYH14):c.1755C>T (p.Gly585=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2631432	NM_001145809.2(MYH14):c.1835A>G (p.Asp612Gly)	MYH14 (D604G +1 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 178416	NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp)	MYH14 (R640W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 228871	NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln)	MYH14 (R640Q +1 more)	Single nucleotide variant (missense variant)	MYH14-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 227574	NM_001145809.2(MYH14):c.1944C>T (p.Asp648=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder +2 more	GBenign/Likely benign
Select item 227575	NM_001145809.2(MYH14):c.1995G>A (p.Ser665=)	MYH14	Single nucleotide variant (synonymous variant +1 more)	MYH14-related disorder +1 more	GLikely benign
Select item 44055	NM_001145809.2(MYH14):c.2205C>G (p.Arg735=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 44056	NM_001145809.2(MYH14):c.2250A>G (p.Pro750=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 257574	NM_001145809.2(MYH14):c.2355-17C>T	MYH14	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 44057	NM_001145809.2(MYH14):c.2355-14C>T	MYH14	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 44058	NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys)	MYH14 (E787K +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GConflicting classifications of pathogenicity
Select item 3053851	NM_001145809.2(MYH14):c.2391C>G (p.Gly797=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely benign
Select item 287599	NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)	MYH14 (A770V +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2628759	NM_001145809.2(MYH14):c.2681G>A (p.Arg894Gln)	MYH14 (R853Q +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 1303155	NM_001145809.2(MYH14):c.2717C>T (p.Thr906Met)	MYH14 (T865M +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder +1 more	GUncertain significance
Select item 3053480	NM_001145809.2(MYH14):c.2817A>T (p.Arg939=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely benign
Select item 44060	NM_001145809.2(MYH14):c.2827-9A>C	MYH14	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 721130	NM_001145809.2(MYH14):c.2921G>A (p.Arg974His)	MYH14 (R941H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3033714	NM_001145809.2(MYH14):c.2932C>G (p.Leu978Val)	MYH14 (L937V +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 44062	NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 44063	NM_001145809.2(MYH14):c.3033+11T>C	MYH14	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2629494	NM_001145809.2(MYH14):c.3247C>T (p.Leu1083Phe)	MYH14 (L1042F +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 1661999	NM_001145809.2(MYH14):c.3295+10C>T	MYH14	Single nucleotide variant (intron variant)	MYH14-related disorder +1 more	GLikely benign
Select item 3029269	NM_001145809.2(MYH14):c.3300C>T (p.Arg1100=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely benign
Select item 501071	NM_001145809.2(MYH14):c.3363G>C (p.Glu1121Asp)	MYH14 (E1080D +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder +1 more	GUncertain significance
Select item 44066	NM_001145809.2(MYH14):c.3468-3C>T	MYH14	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 44067	NM_001145809.2(MYH14):c.3680+9C>T	MYH14	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 329934	NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)	MYH14 (R1243W +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 329935	NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu)	MYH14 (V1291L +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder +2 more	GBenign/Likely benign
Select item 3033612	NM_001145809.2(MYH14):c.4112C>G (p.Thr1371Arg)	MYH14 (T1330R +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 2632576	NM_001145809.2(MYH14):c.4144C>G (p.Leu1382Val)	MYH14 (L1341V +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 2636587	NM_001145809.2(MYH14):c.4355G>A (p.Arg1452Gln)	MYH14 (R1411Q +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 1380331	NM_001145809.2(MYH14):c.4412A>G (p.Glu1471Gly)	MYH14 (E1438G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227579	NM_001145809.2(MYH14):c.4417G>A (p.Val1473Met)	MYH14 (V1473M +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GLikely benign
Select item 505306	NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder +2 more	GBenign/Likely benign
Select item 2634629	NM_001145809.2(MYH14):c.4625G>A (p.Arg1542Gln)	MYH14 (R1501Q +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 178421	NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln)	MYH14 (R1562Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 44070	NM_001145809.2(MYH14):c.4741G>A (p.Val1581Ile)	MYH14 (V1581I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 257575	NM_001145809.2(MYH14):c.4752+15C>T	MYH14	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 257576	NM_001145809.2(MYH14):c.4752+16G>A	MYH14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 44072	NM_001145809.2(MYH14):c.4753-9C>T	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 2633912	NM_001145809.2(MYH14):c.4853A>T (p.Asp1618Val)	MYH14 (D1577V +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 164202	NM_001145809.2(MYH14):c.5083G>C (p.Gly1695Arg)	MYH14 (G1695R +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder +2 more	GBenign/Likely benign
Select item 257577	NM_001145809.2(MYH14):c.5128-11G>A	MYH14	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2629667	NM_001145809.2(MYH14):c.5171C>T (p.Thr1724Ile)	MYH14 (T1683I +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 1611164	NM_001145809.2(MYH14):c.5202G>A (p.Arg1734=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder +1 more	GLikely benign
Select item 178422	NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3060143	NM_001145809.2(MYH14):c.5257-10A>G	MYH14	Single nucleotide variant (intron variant)	MYH14-related disorder	GLikely benign
Select item 178617	NM_001145809.2(MYH14):c.5281C>A (p.Arg1761=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 596140	NM_001145809.2(MYH14):c.5401G>A (p.Glu1801Lys)	MYH14 (E1760K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44075	NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 329948	NM_001145809.2(MYH14):c.5447G>A (p.Arg1816His)	MYH14 (R1816H +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder +2 more	GBenign/Likely benign
Select item 3053235	NM_001145809.2(MYH14):c.5469+1G>T	MYH14	Single nucleotide variant (splice donor variant)	MYH14-related disorder	GUncertain significance
Select item 257578	NM_001145809.2(MYH14):c.5469+16C>T	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GBenign
Select item 504620	NM_001145809.2(MYH14):c.5533C>T (p.Arg1845Trp)	MYH14 (R1845W +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder +2 more	GBenign
Select item 2630314	NM_001145809.2(MYH14):c.5534G>C (p.Arg1845Pro)	MYH14 (R1804P +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 227580	NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His)	MYH14 (R1858H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2635236	NM_001145809.2(MYH14):c.5678+1G>A	MYH14	Single nucleotide variant (splice donor variant)	MYH14-related disorder	GUncertain significance
Select item 226747	NM_001145809.2(MYH14):c.5678+12C>T	MYH14	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 504621	NM_001145809.2(MYH14):c.5778C>T (p.Leu1926=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder +2 more	GBenign/Likely benign
Select item 3052697	NM_001145809.2(MYH14):c.5784C>T (p.Asp1928=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely benign
Select item 44076	NM_001145809.2(MYH14):c.5868C>T (p.Ala1956=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 504623	NM_001145809.2(MYH14):c.5960+8C>T	MYH14	Single nucleotide variant (intron variant)	MYH14-related disorder +2 more	GBenign/Likely benign
Select item 2630202	NM_001145809.2(MYH14):c.5991_6004delinsTAGAGGAGGGCGTGGCA (p.Val1998_Phe2002delinsArgGlyGlyArgGlyIle)	MYH14	Indel (inframe_indel)	MYH14-related disorder	GUncertain significance
Select item 2635483	NM_001145809.2(MYH14):c.5998del (p.Gln2000fs)	MYH14 (Q1959fs +2 more)	Deletion (frameshift variant)	MYH14-related disorder	GUncertain significance
Select item 44078	NM_001145809.2(MYH14):c.6012A>T (p.Leu2004=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3041044	NM_001145809.2(MYH14):c.6090C>G (p.Ser2030=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely benign
Select item 3037879	NM_001145809.2(MYH14):c.6093A>C (p.Pro2031=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely benign
Select item 993658	NM_001145809.2(MYH14):c.6096A>C (p.Pro2032=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

ClinVar

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Items: 91