ClinVar for Gene (Select 79784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369700	NM_001145809.2(MYH14):c.6050C>T (p.Ala2017Val)	MYH14 (A1976V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368715	NM_001145809.2(MYH14):c.3862_3873del (p.Glu1288_Val1291del)	MYH14	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3368043	NM_001145809.2(MYH14):c.3491G>A (p.Arg1164Gln)	MYH14 (R1123Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367331	NM_001145809.2(MYH14):c.5056G>A (p.Glu1686Lys)	MYH14 (E1645K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366786	NM_001145809.2(MYH14):c.4330G>A (p.Ala1444Thr)	MYH14 (A1403T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365737	NM_001145809.2(MYH14):c.5345+4A>G	MYH14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365166	NM_001145809.2(MYH14):c.4796C>A (p.Ala1599Asp)	MYH14 (A1558D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364136	NM_001145809.2(MYH14):c.5629C>T (p.Leu1877Phe)	MYH14 (L1836F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363255	NM_001145809.2(MYH14):c.3319G>A (p.Gly1107Ser)	MYH14 (G1066S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359940	NM_001145809.2(MYH14):c.4997A>G (p.Glu1666Gly)	MYH14 (E1625G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355103	NM_001145809.2(MYH14):c.32G>A (p.Arg11Gln)	MYH14 (R11Q)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 3352332	NM_001145809.2(MYH14):c.2901G>T (p.Thr967=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely benign
Select item 3347182	NM_001145809.2(MYH14):c.5038C>G (p.Leu1680Val)	MYH14 (L1639V +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 3346358	NM_001145809.2(MYH14):c.6011T>C (p.Leu2004Pro)	MYH14 (L1963P +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 3345034	NM_001145809.2(MYH14):c.4741del (p.Val1581fs)	MYH14 (V1540fs +2 more)	Deletion (frameshift variant)	MYH14-related disorder	GLikely pathogenic
Select item 3344281	NM_001145809.2(MYH14):c.2545G>A (p.Val849Ile)	MYH14 (V808I +2 more)	Single nucleotide variant (missense variant)	MYH14-related disorder	GUncertain significance
Select item 3343509	NM_001145809.2(MYH14):c.2636G>A (p.Arg879Gln)	MYH14 (R838Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343374	NM_001145809.2(MYH14):c.3150C>A (p.Asp1050Glu)	MYH14 (D1009E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342168	NM_001145809.2(MYH14):c.4654G>A (p.Glu1552Lys)	MYH14 (E1511K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341891	NM_001145809.2(MYH14):c.63C>T (p.Pro21=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340789	NM_001145809.2(MYH14):c.5962C>A (p.Arg1988Ser)	MYH14 (R1947S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340399	NM_001145809.2(MYH14):c.4001C>T (p.Ala1334Val)	MYH14 (A1293V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3337349	NM_001145809.2(MYH14):c.3838T>C (p.Trp1280Arg)	MYH14 (W1239R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297411	NM_001145809.2(MYH14):c.911A>C (p.Lys304Thr)	LOC121852992, MYH14 (K296T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297410	NM_001145809.2(MYH14):c.248C>A (p.Ala83Glu)	MYH14 (A83E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297409	NM_001145809.2(MYH14):c.3389T>C (p.Val1130Ala)	MYH14 (V1130A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3297407	NM_001145809.2(MYH14):c.1132T>C (p.Ser378Pro)	MYH14 (S370P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297406	NM_001145809.2(MYH14):c.2309G>A (p.Arg770His)	MYH14 (R737H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297405	NM_001145809.2(MYH14):c.1396C>T (p.Arg466Cys)	MYH14 (R466C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297404	NM_001145809.2(MYH14):c.3640G>A (p.Glu1214Lys)	MYH14 (E1173K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297403	NM_001145809.2(MYH14):c.3737G>A (p.Arg1246His)	MYH14 (R1213H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257064	NM_001145809.2(MYH14):c.1918C>G (p.Arg640Gly)	MYH14 (R632G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3253280	NM_001145809.2(MYH14):c.798C>A (p.Asn266Lys)	MYH14 (N258K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252239	NM_001145809.2(MYH14):c.4642C>T (p.Arg1548Trp)	MYH14 (R1507W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250607	NM_001145809.2(MYH14):c.5567G>A (p.Arg1856Gln)	MYH14 (R1815Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3248474	NC_000019.9:g.(?_50713623)_(50902761_?)dup	KCNC3, MYH14 +3 more	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3242711	NC_000019.9:g.(?_50747479)_(50813047_?)dup	MYH14	Duplication	not provided	GUncertain significance
Select item 3234812	NM_001145809.2(MYH14):c.2566C>T (p.Arg856Trp)	MYH14 (R815W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234805	NM_001145809.2(MYH14):c.2349G>A (p.Arg783=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233790	NM_001145809.2(MYH14):c.3749C>T (p.Ala1250Val)	MYH14 (A1209V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157016	NM_001145809.2(MYH14):c.5965G>A (p.Gly1989Ser)	MYH14 (G1956S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157003	NM_001145809.2(MYH14):c.5723G>A (p.Arg1908Gln)	MYH14 (R1875Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156962	NM_001145809.2(MYH14):c.5383C>T (p.Arg1795Cys)	MYH14 (R1754C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156920	NM_001145809.2(MYH14):c.4988G>A (p.Arg1663Gln)	MYH14 (R1622Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156868	NM_001145809.2(MYH14):c.4394G>A (p.Arg1465His)	MYH14 (R1465H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156837	NM_001145809.2(MYH14):c.4202C>T (p.Ala1401Val)	MYH14 (A1368V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156829	NM_001145809.2(MYH14):c.4183C>T (p.Arg1395Trp)	MYH14 (R1362W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156813	NM_001145809.2(MYH14):c.4025G>T (p.Arg1342Leu)	MYH14 (R1301L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156807	NM_001145809.2(MYH14):c.3881T>G (p.Leu1294Arg)	MYH14 (L1253R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156775	NM_001145809.2(MYH14):c.293G>T (p.Arg98Leu)	MYH14 (R98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156765	NM_001145809.2(MYH14):c.2909G>A (p.Arg970Lys)	MYH14 (R929K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156752	NM_001145809.2(MYH14):c.2812G>C (p.Gly938Arg)	MYH14 (G897R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156747	NM_001145809.2(MYH14):c.2791C>G (p.Arg931Gly)	MYH14 (R890G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156744	NM_001145809.2(MYH14):c.2764G>A (p.Val922Met)	MYH14 (V889M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156736	NM_001145809.2(MYH14):c.243G>T (p.Glu81Asp)	MYH14 (E81D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156730	NM_001145809.2(MYH14):c.2461G>A (p.Val821Met)	MYH14 (V780M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156720	NM_001145809.2(MYH14):c.2176C>T (p.Leu726Phe)	MYH14 (L726F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075844	NM_001145809.2(MYH14):c.5825G>A (p.Arg1942Gln)	MYH14 (R1901Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3067627	NM_001145809.2(MYH14):c.360G>T (p.Ser120=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067417	NM_001145809.2(MYH14):c.4128C>T (p.His1376=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063677	NM_001145809.2(MYH14):c.2585+12C>T	MYH14	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060143	NM_001145809.2(MYH14):c.5257-10A>G	MYH14	Single nucleotide variant (intron variant)	MYH14-related disorder	GLikely benign
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 3053480	NM_001145809.2(MYH14):c.2817A>T (p.Arg939=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely 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 3052697	NM_001145809.2(MYH14):c.5784C>T (p.Asp1928=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely benign
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 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 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 3029269	NM_001145809.2(MYH14):c.3300C>T (p.Arg1100=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder	GLikely benign
Select item 3026476	NM_001145809.2(MYH14):c.204G>C (p.Ala68=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026332	NM_001145809.2(MYH14):c.2863C>A (p.Arg955=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025385	NM_001145809.2(MYH14):c.1262G>A (p.Arg421Gln)	MYH14 (R413Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023467	NM_001145809.2(MYH14):c.1101C>T (p.His367=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023250	NM_001145809.2(MYH14):c.1647C>G (p.Ile549Met)	MYH14 (I541M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020897	NM_001145809.2(MYH14):c.1483-20C>T	MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020412	NM_001145809.2(MYH14):c.4235A>G (p.Glu1412Gly)	MYH14 (E1371G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020264	NM_001145809.2(MYH14):c.2425-17del	MYH14	Deletion (intron variant)	not provided	GLikely benign
Select item 3018966	NM_001145809.2(MYH14):c.5423G>A (p.Ser1808Asn)	MYH14 (S1767N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018714	NM_001145809.2(MYH14):c.2646G>A (p.Ala882=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013595	NM_001145809.2(MYH14):c.918G>A (p.Glu306=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012591	NM_001145809.2(MYH14):c.1552A>G (p.Met518Val)	MYH14 (M510V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012238	NM_001145809.2(MYH14):c.5469+18C>T	MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011757	NM_001145809.2(MYH14):c.912G>A (p.Lys304=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009314	NM_001145809.2(MYH14):c.723G>C (p.Glu241Asp)	MYH14 (E233D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007079	NM_001145809.2(MYH14):c.541G>T (p.Ala181Ser)	MYH14 (A181S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004600	NM_001145809.2(MYH14):c.4291-9T>C	MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004449	NM_001145809.2(MYH14):c.945G>A (p.Leu315=)	LOC121852992, MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004031	NM_001145809.2(MYH14):c.2110C>T (p.Arg704Cys)	MYH14 (R704C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003208	NM_001145809.2(MYH14):c.2088C>T (p.Asp696=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002086	NM_001145809.2(MYH14):c.563-6del	MYH14	Deletion (intron variant)	not provided	GBenign
Select item 3001954	NM_001145809.2(MYH14):c.4442G>A (p.Arg1481His)	MYH14 (R1440H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997571	NM_001145809.2(MYH14):c.3609C>T (p.Gly1203=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996871	NM_001145809.2(MYH14):c.3470C>T (p.Ala1157Val)	MYH14 (A1116V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994591	NM_001145809.2(MYH14):c.3360G>C (p.Gly1120=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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