"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 164161	NM_001145809.2(MYH14):c.33G>A (p.Arg11=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 930043	NM_001145809.2(MYH14):c.66G>A (p.Glu22=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 44081	NM_001145809.2(MYH14):c.91C>A (p.Pro31Thr)	MYH14 (P31T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 44052	NM_001145809.2(MYH14):c.192G>T (p.Gly64=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 178410	NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)	MYH14 (G132S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 44071	NM_001145809.2(MYH14):c.474T>C (p.Ile158=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 44073	NM_001145809.2(MYH14):c.483G>A (p.Met161Ile)	MYH14 (M161I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 228878	NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr)	MYH14 (A176T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 164162	NM_001145809.2(MYH14):c.534C>T (p.Thr178=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 505761	NM_001145809.2(MYH14):c.563-3C>G	MYH14	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 178411	NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys)	MYH14 (R189C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 179563	NM_001145809.2(MYH14):c.590+13G>A	MYH14	Single nucleotide variant (intron variant)	not specified	GLikely 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 504945	NM_001145809.2(MYH14):c.660G>A (p.Ser220=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 164165	NM_001145809.2(MYH14):c.660G>T (p.Ser220=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 505603	NM_001145809.2(MYH14):c.693C>T (p.Pro231=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 164166	NM_001145809.2(MYH14):c.693+12C>T	MYH14	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 44080	NM_001145809.2(MYH14):c.810C>T (p.Phe270=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178412	NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)	MYH14 (I274V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GConflicting classifications of pathogenicity
Select item 178413	NM_001145809.2(MYH14):c.826A>G (p.Ile276Val)	MYH14 (I276V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 227582	NM_001145809.2(MYH14):c.858C>T (p.Gly286=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 164169	NM_001145809.2(MYH14):c.949G>A (p.Gly317Arg)	LOC121852992, MYH14 (G317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227583	NM_001145809.2(MYH14):c.975C>T (p.Ala325=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 44043	NM_001145809.2(MYH14):c.1024C>G (p.Pro342Ala)	MYH14 (P342A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 227572	NM_001145809.2(MYH14):c.1026G>A (p.Pro342=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 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)	Autosomal dominant nonsyndromic hearing loss 4A +3 more	GConflicting classifications of pathogenicity
Select item 179970	NM_001145809.2(MYH14):c.1095C>A (p.Phe365Leu)	MYH14 (F365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 44045	NM_001145809.2(MYH14):c.1115-4C>T	MYH14	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 44046	NM_001145809.2(MYH14):c.1149T>C (p.Phe383=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
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
Select item 227573	NM_001145809.2(MYH14):c.1155C>T (p.Asn385=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 506275	NM_001145809.2(MYH14):c.1174C>T (p.Arg392Trp)	MYH14 (R392W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 164171	NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser)	MYH14 (N402S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign/Likely benign
Select item 504616	NM_001145809.2(MYH14):c.1210+12G>A	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GConflicting classifications of pathogenicity
Select item 930154	NM_001145809.2(MYH14):c.1217A>G (p.Gln406Arg)	MYH14 (Q398R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 929974	NM_001145809.2(MYH14):c.1251G>A (p.Thr417=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 164172	NM_001145809.2(MYH14):c.1265C>G (p.Ala422Gly)	MYH14 (A422G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 44047	NM_001145809.2(MYH14):c.1275C>T (p.Thr425=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +1 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)	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 517244	NM_001145809.2(MYH14):c.1330-7C>T	MYH14	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 44048	NM_001145809.2(MYH14):c.1382G>A (p.Arg461His)	MYH14 (R461H +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)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 179144	NM_001145809.2(MYH14):c.1533G>A (p.Gln511=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 178953	NM_001145809.2(MYH14):c.1625T>G (p.Leu542Arg)	MYH14 (L542R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 178954	NM_001145809.2(MYH14):c.1626G>A (p.Leu542=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 180008	NM_001145809.2(MYH14):c.1655C>T (p.Pro552Leu)	MYH14 (P552L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 517287	NM_001145809.2(MYH14):c.1665C>T (p.Pro555=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 44050	NM_001145809.2(MYH14):c.1755C>T (p.Gly585=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 44051	NM_001145809.2(MYH14):c.1890C>T (p.Val630=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 178416	NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp)	MYH14 (R640W +1 more)	Single nucleotide variant (missense variant)	not specified +1 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)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227574	NM_001145809.2(MYH14):c.1944C>T (p.Asp648=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 44053	NM_001145809.2(MYH14):c.1992G>A (p.Pro664=)	MYH14	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely 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 227575	NM_001145809.2(MYH14):c.1995G>A (p.Ser665=)	MYH14	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 667269	NM_001145809.2(MYH14):c.2000C>A (p.Pro667Gln)	MYH14 (P667Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 930155	NM_001145809.2(MYH14):c.2018G>A (p.Cys673Tyr)	MYH14 (C673Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 44054	NM_001145809.2(MYH14):c.2041G>C (p.Gly681Arg)	MYH14 (G681R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 227576	NM_001145809.2(MYH14):c.2145C>T (p.Tyr715=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 504895	NM_001145809.2(MYH14):c.2232+9C>T	MYH14	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 164179	NM_001145809.2(MYH14):c.2334C>A (p.Leu778=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 44058	NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys)	MYH14 (E787K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 228872	NM_001145809.2(MYH14):c.2458C>T (p.Arg820Cys)	MYH14 (R820C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 329922	NM_001145809.2(MYH14):c.2600G>A (p.Arg867His)	MYH14 (R826H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 228873	NM_001145809.2(MYH14):c.2667C>G (p.His889Gln)	MYH14 (H889Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517425	NM_001145809.2(MYH14):c.2680C>A (p.Arg894=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 930153	NM_001145809.2(MYH14):c.2701C>A (p.Pro901Thr)	MYH14 (P901T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930042	NM_001145809.2(MYH14):c.2733G>A (p.Val911=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 178417	NM_001145809.2(MYH14):c.2763A>G (p.Lys921=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 44059	NM_001145809.2(MYH14):c.2792G>A (p.Arg931His)	MYH14 (R931H +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 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 505192	NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys)	MYH14 (R947C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 164181	NM_001145809.2(MYH14):c.2840G>A (p.Arg947His)	MYH14 (R947H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44061	NM_001145809.2(MYH14):c.2841C>T (p.Arg947=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 228875	NM_001145809.2(MYH14):c.2900C>G (p.Thr967Arg)	MYH14 (T967R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 286961	NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign/Likely benign
Select item 228876	NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met)	MYH14 (T1033M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 329929	NM_001145809.2(MYH14):c.3259C>T (p.Arg1087Trp)	MYH14 (R1046W +2 more)	Single nucleotide variant (missense variant)	not specified +2 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 505047	NM_001145809.2(MYH14):c.3322C>T (p.Arg1108Cys)	MYH14 (R1108C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 164182	NM_001145809.2(MYH14):c.3467+1G>A	MYH14	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 44066	NM_001145809.2(MYH14):c.3468-3C>T	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 178418	NM_001145809.2(MYH14):c.3475G>T (p.Asp1159Tyr)	MYH14 (D1159Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 164183	NM_001145809.2(MYH14):c.3514C>A (p.Arg1172=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GConflicting classifications of pathogenicity
Select item 517572	NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 504930	NM_001145809.2(MYH14):c.3571G>T (p.Ala1191Ser)	MYH14 (A1191S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178419	NM_001145809.2(MYH14):c.3585G>A (p.Ala1195=)	MYH14	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 505662	NM_001145809.2(MYH14):c.3623C>T (p.Ala1208Val)	MYH14 (A1208V +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 164185	NM_001145809.2(MYH14):c.3663C>T (p.Asn1221=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 44067	NM_001145809.2(MYH14):c.3680+9C>T	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 44068	NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu)	MYH14 (A1250E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign

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