ClinVar for Gene (Select 8735) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156664	NM_003802.3(MYH13):c.898A>C (p.Ile300Leu)	MYH13 (I300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156619	NM_003802.3(MYH13):c.5606A>T (p.Gln1869Leu)	MYH13 (Q1869L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156605	NM_003802.3(MYH13):c.5557G>C (p.Glu1853Gln)	MYH13 (E1853Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156602	NM_003802.3(MYH13):c.5471G>A (p.Arg1824Gln)	MYH13 (R1824Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156588	NM_003802.3(MYH13):c.5378C>T (p.Thr1793Met)	MYH13 (T1793M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156579	NM_003802.3(MYH13):c.5353C>T (p.Arg1785Trp)	MYH13 (R1785W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156574	NM_003802.3(MYH13):c.5291C>T (p.Thr1764Met)	MYH13 (T1764M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156548	NM_003802.3(MYH13):c.4946C>T (p.Thr1649Met)	MYH13 (T1649M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156536	NM_003802.3(MYH13):c.4843G>T (p.Ala1615Ser)	MYH13 (A1615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156527	NM_003802.3(MYH13):c.46T>G (p.Tyr16Asp)	MYH13 (Y16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156515	NM_003802.3(MYH13):c.4511G>A (p.Arg1504Gln)	MYH13 (R1504Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156511	NM_003802.3(MYH13):c.4363A>C (p.Lys1455Gln)	MYH13 (K1455Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156492	NM_003802.3(MYH13):c.4223C>T (p.Thr1408Met)	MYH13 (T1408M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156485	NM_003802.3(MYH13):c.4157G>A (p.Arg1386His)	MYH13 (R1386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156478	NM_003802.3(MYH13):c.4130C>T (p.Thr1377Ile)	MYH13 (T1377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156468	NM_003802.3(MYH13):c.4001C>T (p.Ala1334Val)	MYH13 (A1334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156448	NM_003802.3(MYH13):c.3814C>G (p.Gln1272Glu)	MYH13 (Q1272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156434	NM_003802.3(MYH13):c.3704T>A (p.Met1235Lys)	MYH13 (M1235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156412	NM_003802.3(MYH13):c.3271C>T (p.Leu1091Phe)	MYH13 (L1091F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156407	NM_003802.3(MYH13):c.3143T>C (p.Leu1048Pro)	MYH13 (L1048P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156399	NM_003802.3(MYH13):c.3091C>T (p.Leu1031Phe)	MYH13 (L1031F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156383	NM_003802.3(MYH13):c.2780C>T (p.Thr927Met)	MYH13 (T927M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156377	NM_003802.3(MYH13):c.2538T>A (p.Ser846Arg)	MYH13 (S846R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156363	NM_003802.3(MYH13):c.2480A>G (p.Asn827Ser)	MYH13 (N827S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156362	NM_003802.3(MYH13):c.2464A>G (p.Ile822Val)	MYH13 (I822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156359	NM_003802.3(MYH13):c.2414T>G (p.Phe805Cys)	MYH13 (F805C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156352	NM_003802.3(MYH13):c.2375C>G (p.Thr792Arg)	MYH13 (T792R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156335	NM_003802.3(MYH13):c.2173C>T (p.Arg725Trp)	MYH13 (R725W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156328	NM_003802.3(MYH13):c.2099A>G (p.Asn700Ser)	MYH13 (N700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156325	NM_003802.3(MYH13):c.203G>A (p.Arg68Gln)	MYH13 (R68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156307	NM_003802.3(MYH13):c.1960G>A (p.Val654Met)	MYH13 (V654M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156279	NM_003802.3(MYH13):c.1556T>C (p.Leu519Pro)	MYH13 (L519P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156268	NM_003802.3(MYH13):c.1274C>T (p.Ser425Leu)	MYH13 (S425L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156264	NM_003802.3(MYH13):c.1214G>A (p.Arg405Lys)	MYH13 (R405K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156255	NM_003802.3(MYH13):c.1084G>A (p.Gly362Arg)	MYH13 (G362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156253	NM_003802.3(MYH13):c.1081T>C (p.Tyr361His)	MYH13 (Y361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3053856	NM_003802.3(MYH13):c.606C>T (p.Thr202=)	MYH13	Single nucleotide variant (synonymous variant)	MYH13-related disorder	GLikely benign
Select item 3045591	NM_003802.3(MYH13):c.375C>T (p.Thr125=)	MYH13	Single nucleotide variant (synonymous variant)	MYH13-related disorder	GLikely benign
Select item 3036627	NM_003802.3(MYH13):c.3329AGA[1] (p.Lys1111del)	MYH13 (K1111del)	Microsatellite (inframe deletion)	MYH13-related disorder	GLikely benign
Select item 3034936	NM_003802.3(MYH13):c.5326G>A (p.Glu1776Lys)	MYH13 (E1776K)	Single nucleotide variant (missense variant)	MYH13-related disorder	GLikely benign
Select item 3031787	NM_003802.3(MYH13):c.349-9T>C	MYH13	Single nucleotide variant (intron variant)	MYH13-related disorder	GLikely benign
Select item 3031317	NM_003802.3(MYH13):c.595A>G (p.Ile199Val)	MYH13 (I199V)	Single nucleotide variant (missense variant)	MYH13-related disorder	GLikely benign
Select item 2672714	GRCh37/hg19 17p13.1(chr17:10101525-10415863)x3	GAS7, MYH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2672288	NM_003802.3(MYH13):c.5003A>G (p.Asn1668Ser)	MYH13 (N1668S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2672277	NM_003802.3(MYH13):c.3647G>A (p.Arg1216Gln)	MYH13 (R1216Q)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2647471	NM_003802.3(MYH13):c.348+7G>A	MYH13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647470	NM_003802.3(MYH13):c.1377C>T (p.Ile459=)	MYH13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647469	NM_003802.3(MYH13):c.2417AGA[1] (p.Lys807del)	MYH13 (K807del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2647468	NM_003802.3(MYH13):c.3897G>T (p.Glu1299Asp)	MYH13 (E1299D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647467	NM_003802.3(MYH13):c.4119C>T (p.Ala1373=)	MYH13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621544	NM_003802.3(MYH13):c.827C>G (p.Thr276Arg)	MYH13 (T276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608589	NM_003802.3(MYH13):c.4291G>T (p.Asp1431Tyr)	MYH13 (D1431Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599804	NM_003802.3(MYH13):c.3679G>A (p.Glu1227Lys)	MYH13 (E1227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595495	NM_003802.3(MYH13):c.680C>T (p.Pro227Leu)	MYH13 (P227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592105	NM_003802.3(MYH13):c.5434G>A (p.Gly1812Arg)	MYH13 (G1812R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591387	NM_003802.3(MYH13):c.3474T>A (p.Ser1158Arg)	MYH13 (S1158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589409	NM_003802.3(MYH13):c.608G>A (p.Gly203Glu)	MYH13 (G203E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588313	NM_003802.3(MYH13):c.5098G>A (p.Glu1700Lys)	MYH13 (E1700K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2570396	NM_003802.3(MYH13):c.3820A>T (p.Ile1274Phe)	MYH13 (I1274F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570224	NM_003802.3(MYH13):c.571C>T (p.Arg191Cys)	MYH13 (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569800	NM_003802.3(MYH13):c.178G>A (p.Val60Ile)	MYH13 (V60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560169	NM_003802.3(MYH13):c.3801C>G (p.Asp1267Glu)	MYH13 (D1267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552742	NM_003802.3(MYH13):c.1960G>T (p.Val654Leu)	MYH13 (V654L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551923	NM_003802.3(MYH13):c.1159G>A (p.Gly387Arg)	MYH13 (G387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551529	NM_003802.3(MYH13):c.4518C>A (p.Asn1506Lys)	MYH13 (N1506K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550608	NM_003802.3(MYH13):c.878C>T (p.Ser293Leu)	MYH13 (S293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550231	NM_003802.3(MYH13):c.1903G>A (p.Gly635Arg)	MYH13 (G635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548548	NM_003802.3(MYH13):c.4869G>C (p.Glu1623Asp)	MYH13 (E1623D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546383	NM_003802.3(MYH13):c.3917C>T (p.Thr1306Ile)	MYH13 (T1306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546040	NM_003802.3(MYH13):c.94T>C (p.Phe32Leu)	MYH13 (F32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545624	NM_003802.3(MYH13):c.2558T>A (p.Met853Lys)	MYH13 (M853K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545593	NM_003802.3(MYH13):c.2708T>G (p.Met903Arg)	MYH13 (M903R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542881	NM_003802.3(MYH13):c.5429A>G (p.Lys1810Arg)	MYH13 (K1810R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524615	NM_003802.3(MYH13):c.424G>T (p.Ala142Ser)	MYH13 (A142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519610	NM_003802.3(MYH13):c.5560A>G (p.Met1854Val)	MYH13 (M1854V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518487	NM_003802.3(MYH13):c.4144G>A (p.Asp1382Asn)	MYH13 (D1382N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512568	NM_003802.3(MYH13):c.2560G>T (p.Ala854Ser)	MYH13 (A854S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484768	NM_003802.3(MYH13):c.5731G>A (p.Ala1911Thr)	MYH13 (A1911T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484335	NM_003802.3(MYH13):c.1183G>A (p.Ala395Thr)	MYH13 (A395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476752	NM_003802.3(MYH13):c.350C>A (p.Thr117Asn)	MYH13 (T117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465457	NM_003802.3(MYH13):c.1921G>A (p.Gly641Arg)	MYH13 (G641R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464333	NM_003802.3(MYH13):c.5233G>A (p.Val1745Met)	MYH13 (V1745M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459846	NM_003802.3(MYH13):c.1844C>T (p.Ser615Leu)	MYH13 (S615L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405712	NM_003802.3(MYH13):c.1013T>C (p.Ile338Thr)	MYH13 (I338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403650	NM_003802.3(MYH13):c.4360G>A (p.Asp1454Asn)	MYH13 (D1454N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403256	NM_003802.3(MYH13):c.4866G>A (p.Met1622Ile)	MYH13 (M1622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401921	NM_003802.3(MYH13):c.4021C>T (p.Arg1341Cys)	MYH13 (R1341C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400370	NM_003802.3(MYH13):c.3799G>A (p.Asp1267Asn)	MYH13 (D1267N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399356	NM_003802.3(MYH13):c.2035C>T (p.Pro679Ser)	MYH13 (P679S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396417	NM_003802.3(MYH13):c.3568G>A (p.Glu1190Lys)	MYH13 (E1190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396265	NM_003802.3(MYH13):c.2260G>A (p.Asp754Asn)	MYH13 (D754N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395807	NM_003802.3(MYH13):c.2838T>A (p.Asn946Lys)	MYH13 (N946K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387047	NM_003802.3(MYH13):c.838T>C (p.Ser280Pro)	MYH13 (S280P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387046	NM_003802.3(MYH13):c.3773A>T (p.Asp1258Val)	MYH13 (D1258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386603	NM_003802.3(MYH13):c.3293T>C (p.Ile1098Thr)	MYH13 (I1098T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384531	NM_003802.3(MYH13):c.97G>A (p.Asp33Asn)	MYH13 (D33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383463	NM_003802.3(MYH13):c.931G>A (p.Asp311Asn)	MYH13 (D311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383462	NM_003802.3(MYH13):c.5423C>T (p.Ala1808Val)	MYH13 (A1808V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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