MYO1H[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 115

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 731243	NM_001101421.4(MYO1H):c.65C>T (p.Thr22Ile)	MYO1H (T6I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2346511	NM_001101421.4(MYO1H):c.120C>A (p.Ser40Arg)	MYO1H (S40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258368	NM_001101421.4(MYO1H):c.151C>T (p.Arg51Cys)	MYO1H (R51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164141	NM_001101421.4(MYO1H):c.152G>A (p.Arg51His)	MYO1H (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593382	NM_001101421.4(MYO1H):c.211T>C (p.Tyr71His)	MYO1H (Y71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164239	NM_001101421.4(MYO1H):c.235G>A (p.Val79Met)	MYO1H (V79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297835	NM_001101421.4(MYO1H):c.298A>G (p.Ile100Val)	MYO1H (I100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245510	NM_001101421.4(MYO1H):c.310G>A (p.Ala104Thr)	MYO1H (A104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539600	NM_001101421.4(MYO1H):c.317G>A (p.Arg106Gln)	MYO1H (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164300	NM_001101421.4(MYO1H):c.373G>T (p.Ala125Ser)	MYO1H (A125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164303	NM_001101421.4(MYO1H):c.389C>T (p.Ala130Val)	MYO1H (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164306	NM_001101421.4(MYO1H):c.455G>A (p.Arg152His)	MYO1H (R152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475408	NM_001101421.4(MYO1H):c.505A>G (p.Arg169Gly)	MYO1H (R169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164310	NM_001101421.4(MYO1H):c.509C>T (p.Thr170Met)	MYO1H (T170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394693	NM_001101421.4(MYO1H):c.515G>A (p.Arg172Gln)	MYO1H (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147614	GRCh38/hg38 12q24.11(chr12:109398462-109637311)x3	KCTD10, LOC130008716 +4 more	Copy number gain	See cases	GBenign
Select item 2211496	NM_001101421.4(MYO1H):c.580G>A (p.Val194Ile)	MYO1H (V194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717107	NM_001101421.4(MYO1H):c.599G>T (p.Ser200Ile)	MYO1H (S184I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2221351	NM_001101421.4(MYO1H):c.617C>A (p.Ser206Tyr)	MYO1H (S206Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164317	NM_001101421.4(MYO1H):c.620G>A (p.Arg207Gln)	MYO1H (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346698	NM_001101421.4(MYO1H):c.637G>A (p.Glu213Lys)	MYO1H (E213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513700	NM_001101421.4(MYO1H):c.668A>C (p.Gln223Pro)	MYO1H (Q223P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164326	NM_001101421.4(MYO1H):c.685G>A (p.Glu229Lys)	MYO1H (E229K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257344	NM_001101421.4(MYO1H):c.715G>C (p.Glu239Gln)	MYO1H (E239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164337	NM_001101421.4(MYO1H):c.811G>A (p.Ala271Thr)	MYO1H (A271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768581	NM_001101421.4(MYO1H):c.818C>G (p.Ser273Cys)	MYO1H (S257C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2540670	NM_001101421.4(MYO1H):c.874G>C (p.Val292Leu)	MYO1H (V292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269173	NM_001101421.4(MYO1H):c.895G>A (p.Gly299Ser)	MYO1H (G299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164340	NM_001101421.4(MYO1H):c.923C>T (p.Ala308Val)	MYO1H (A308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164345	NM_001101421.4(MYO1H):c.944A>C (p.Glu315Ala)	MYO1H (E315A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282378	NM_001101421.4(MYO1H):c.985G>A (p.Val329Ile)	MYO1H (V329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433967	NM_001101421.4(MYO1H):c.1036-1G>T	MYO1H	Single nucleotide variant (splice acceptor variant)	Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	GUncertain significance
Select item 993849	NM_001101421.4(MYO1H):c.1064_1065del (p.Ser355fs)	MYO1H (S355fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 770990	NM_001101421.4(MYO1H):c.1097T>A (p.Val366Asp)	MYO1H (V350D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1500238	NM_001101421.4(MYO1H):c.1106G>A (p.Arg369Gln)	MYO1H (R369Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2405782	NM_001101421.4(MYO1H):c.1136A>G (p.Asn379Ser)	MYO1H (N379S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164149	NM_001101421.4(MYO1H):c.1178T>C (p.Ile393Thr)	MYO1H (I393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207971	NM_001101421.4(MYO1H):c.1238G>A (p.Cys413Tyr)	MYO1H (C413Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412097	NM_001101421.4(MYO1H):c.1243A>G (p.Asn415Asp)	MYO1H (N415D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557339	NM_001101421.4(MYO1H):c.1245T>A (p.Asn415Lys)	MYO1H (N415K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768582	NM_001101421.4(MYO1H):c.1329+11del	MYO1H	Deletion (intron variant)	not provided	GBenign
Select item 2508045	NM_001101421.4(MYO1H):c.1337C>T (p.Pro446Leu)	MYO1H (P446L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297833	NM_001101421.4(MYO1H):c.1350C>A (p.Phe450Leu)	MYO1H (F450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164164	NM_001101421.4(MYO1H):c.1364T>C (p.Ile455Thr)	MYO1H (I455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244387	NM_001101421.4(MYO1H):c.1390A>G (p.Lys464Glu)	MYO1H (K464E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729566	NM_001101421.4(MYO1H):c.1426C>T (p.Arg476Trp)	MYO1H (R460W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3164171	NM_001101421.4(MYO1H):c.1493A>G (p.His498Arg)	MYO1H (H498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164175	NM_001101421.4(MYO1H):c.1505G>A (p.Arg502His)	MYO1H (R502H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539372	NM_001101421.4(MYO1H):c.1517G>A (p.Gly506Asp)	MYO1H (G506D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215166	NM_001101421.4(MYO1H):c.1520C>T (p.Pro507Leu)	MYO1H (P507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164182	NM_001101421.4(MYO1H):c.1535G>A (p.Arg512Lys)	MYO1H (R512K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164186	NM_001101421.4(MYO1H):c.1556G>A (p.Arg519Gln)	MYO1H (R519Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550577	NM_001101421.4(MYO1H):c.1556G>C (p.Arg519Pro)	MYO1H (R519P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297837	NM_001101421.4(MYO1H):c.1583C>T (p.Thr528Ile)	MYO1H (T528I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461958	NM_001101421.4(MYO1H):c.1630A>G (p.Arg544Gly)	MYO1H (R544G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472286	NM_001101421.4(MYO1H):c.1661A>G (p.Lys554Arg)	MYO1H (K554R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601680	NM_001101421.4(MYO1H):c.1709G>A (p.Arg570Gln)	MYO1H (R570Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378645	NM_001101421.4(MYO1H):c.1709G>C (p.Arg570Pro)	MYO1H (R570P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164209	NM_001101421.4(MYO1H):c.1717C>G (p.Pro573Ala)	MYO1H (P573A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224662	NM_001101421.4(MYO1H):c.1723A>G (p.Thr575Ala)	MYO1H (T575A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252878	NM_001101421.4(MYO1H):c.1729G>T (p.Gly577Trp)	MYO1H (G577W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547557	NM_001101421.4(MYO1H):c.1776C>G (p.Ile592Met)	MYO1H (I592M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260836	NM_001101421.4(MYO1H):c.1781A>G (p.Lys594Arg)	MYO1H (K594R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164223	NM_001101421.4(MYO1H):c.1810C>T (p.Pro604Ser)	MYO1H (P604S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469921	NM_001101421.4(MYO1H):c.1816G>A (p.Asp606Asn)	MYO1H (D606N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459757	NM_001101421.4(MYO1H):c.1828C>T (p.Pro610Ser)	MYO1H (P610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341353	NM_001101421.3(MYO1H):c.1784del	MYO1H	Deletion	Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	GLikely benign
Select item 2338481	NM_001101421.4(MYO1H):c.1832G>A (p.Ser611Asn)	MYO1H (S611N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164234	NM_001101421.4(MYO1H):c.1835A>T (p.Lys612Ile)	MYO1H (K612I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297834	NM_001101421.4(MYO1H):c.1933G>A (p.Glu645Lys)	MYO1H (E645K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560937	NM_001101421.4(MYO1H):c.1945C>G (p.Gln649Glu)	MYO1H (Q649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205226	NM_001101421.4(MYO1H):c.2080C>T (p.Arg694Cys)	MYO1H (R694C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241852	NM_001101421.4(MYO1H):c.2228A>G (p.His743Arg)	MYO1H (H743R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227557	NM_001101421.4(MYO1H):c.2234G>A (p.Arg745His)	MYO1H (R745H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3164255	NM_001101421.4(MYO1H):c.2249G>A (p.Arg750Gln)	MYO1H (R750Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256163	NM_001101421.4(MYO1H):c.2282G>A (p.Arg761Gln)	MYO1H (R761Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366965	NM_001101421.4(MYO1H):c.2318G>A (p.Arg773His)	MYO1H (R773H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263240	NM_001101421.4(MYO1H):c.2318G>T (p.Arg773Leu)	MYO1H (R773L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297535	NM_001101421.4(MYO1H):c.2321A>T (p.Asn774Ile)	MYO1H (N774I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297836	NM_001101421.4(MYO1H):c.2360T>C (p.Phe787Ser)	MYO1H (F787S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713498	NM_001101421.4(MYO1H):c.2365C>T (p.Arg789Trp)	MYO1H (R773W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2409074	NM_001101421.4(MYO1H):c.2413C>G (p.Leu805Val)	MYO1H (L805V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253886	NM_001101421.4(MYO1H):c.2434C>T (p.Pro812Ser)	MYO1H (P812S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701926	NM_001101421.4(MYO1H):c.2454+1G>A	MYO1H	Single nucleotide variant (splice donor variant)	Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	GLikely pathogenic
Select item 2258709	NM_001101421.4(MYO1H):c.2478G>A (p.Met826Ile)	MYO1H (M826I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297832	NM_001101421.4(MYO1H):c.2482G>C (p.Val828Leu)	MYO1H (V828L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164276	NM_001101421.4(MYO1H):c.2482G>A (p.Val828Met)	MYO1H (V828M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228411	NM_001101421.4(MYO1H):c.2527C>T (p.Arg843Trp)	MYO1H (R843W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1210289	NM_001101421.4(MYO1H):c.2572del (p.Arg858fs)	MYO1H (R842fs +1 more)	Deletion (frameshift variant)	Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	GPathogenic
Select item 2251939	NM_001101421.4(MYO1H):c.2612C>T (p.Pro871Leu)	MYO1H (P871L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286755	NM_001101421.4(MYO1H):c.2722G>A (p.Gly908Ser)	MYO1H (G908S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337694	NM_001101421.4(MYO1H):c.2741G>A (p.Arg914Gln)	MYO1H (R914Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320217	NM_001101421.4(MYO1H):c.2804T>C (p.Ile935Thr)	MYO1H (I935T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223131	NM_001101421.4(MYO1H):c.2905G>A (p.Val969Ile)	MYO1H (V969I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208205	NM_001101421.4(MYO1H):c.2905G>C (p.Val969Leu)	MYO1H (V969L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734705	NM_001101421.4(MYO1H):c.2925G>A (p.Val975=)	MYO1H	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2268702	NM_001101421.4(MYO1H):c.2932G>T (p.Ala978Ser)	MYO1H (A978S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065502	NM_001101421.4(MYO1H):c.2965_2967del (p.Glu989del)	MYO1H (E989del)	Deletion (inframe_deletion)	Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	GUncertain significance

<< First< Prev

Page of 2