MYO1D[gene] and "single gene"[properties] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2344203	NM_015194.3(MYO1D):c.2965C>G (p.Gln989Glu)	MYO1D (Q901E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462450	NM_015194.3(MYO1D):c.2950C>T (p.Arg984Trp)	MYO1D (R984W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157379	NM_015194.3(MYO1D):c.2865-44956_2865-37036del	MYO1D	Deletion (intron variant)	Preeclampsia	Gnot provided
Select item 2476672	NM_015194.3(MYO1D):c.2863A>C (p.Ser955Arg)	MYO1D (S867R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2307160	NM_015194.3(MYO1D):c.2819G>A (p.Ser940Asn)	MYO1D (S852N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734200	NM_015194.3(MYO1D):c.2793C>T (p.Leu931=)	MYO1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3163478	NM_015194.3(MYO1D):c.2563A>G (p.Met855Val)	MYO1D (M767V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213300	NM_015194.3(MYO1D):c.2549G>A (p.Arg850Gln)	MYO1D (R762Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314088	NM_015194.3(MYO1D):c.2508G>C (p.Gln836His)	MYO1D (Q836H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2798127	NM_015194.3(MYO1D):c.2491-5_2491-4dup	MYO1D	Duplication (intron variant)	not provided	GLikely benign
Select item 2798128	NM_015194.3(MYO1D):c.2491-7_2491-6del	MYO1D	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2589620	NM_015194.3(MYO1D):c.2392C>T (p.Pro798Ser)	MYO1D (P798S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163474	NM_015194.3(MYO1D):c.2372G>A (p.Ser791Asn)	MYO1D (S791N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590574	NM_015194.3(MYO1D):c.2333C>T (p.Thr778Met)	MYO1D (T778M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781363	NM_015194.3(MYO1D):c.2312G>A (p.Arg771His)	MYO1D (R771H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710462	NM_015194.3(MYO1D):c.2293C>T (p.Pro765Ser)	MYO1D (P765S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2323374	NM_015194.3(MYO1D):c.2278G>C (p.Val760Leu)	MYO1D (V672L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511214	NM_015194.3(MYO1D):c.2236C>T (p.Arg746Cys)	MYO1D (R746C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339825	NM_015194.3(MYO1D):c.2220C>G (p.Ile740Met)	MYO1D (I652M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294369	NM_015194.3(MYO1D):c.2155A>G (p.Lys719Glu)	MYO1D (K631E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163458	NM_015194.3(MYO1D):c.2081G>A (p.Arg694His)	MYO1D (R694H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205410	NM_015194.3(MYO1D):c.2054G>A (p.Arg685Gln)	MYO1D (R597Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163453	NM_015194.3(MYO1D):c.2030C>A (p.Thr677Asn)	MYO1D (T589N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493018	NM_015194.3(MYO1D):c.1919A>T (p.Lys640Met)	MYO1D (K552M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163449	NM_015194.3(MYO1D):c.1901A>G (p.Lys634Arg)	MYO1D (K546R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163445	NM_015194.3(MYO1D):c.1822C>T (p.His608Tyr)	MYO1D (H520Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236801	NM_015194.3(MYO1D):c.1820G>A (p.Arg607Gln)	MYO1D (R607Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163440	NM_015194.3(MYO1D):c.1813C>T (p.Arg605Cys)	MYO1D (R517C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163436	NM_015194.3(MYO1D):c.1807G>A (p.Asp603Asn)	MYO1D (D603N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163432	NM_015194.3(MYO1D):c.1763G>A (p.Arg588His)	MYO1D (R588H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163430	NM_015194.3(MYO1D):c.1759G>A (p.Val587Ile)	MYO1D (V587I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321503	NM_015194.3(MYO1D):c.1661T>G (p.Ile554Ser)	MYO1D (I466S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271982	NM_015194.3(MYO1D):c.1598G>A (p.Arg533His)	MYO1D (R445H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163419	NM_015194.3(MYO1D):c.1553G>A (p.Gly518Asp)	MYO1D (G518D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721037	NM_015194.3(MYO1D):c.1530C>T (p.Gly510=)	MYO1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2247620	NM_015194.3(MYO1D):c.1447G>A (p.Ala483Thr)	MYO1D (A395T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781858	NM_015194.3(MYO1D):c.1389C>T (p.Val463=)	MYO1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2333021	NM_015194.3(MYO1D):c.1274G>A (p.Arg425Gln)	MYO1D (R425Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330098	NM_015194.3(MYO1D):c.1150A>G (p.Ile384Val)	MYO1D (I296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259893	NM_015194.3(MYO1D):c.1139G>T (p.Gly380Val)	MYO1D (G292V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544063	NM_015194.3(MYO1D):c.1112C>T (p.Thr371Ile)	MYO1D (T371I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604786	NM_015194.3(MYO1D):c.1103A>G (p.Tyr368Cys)	MYO1D (Y368C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163395	NM_015194.3(MYO1D):c.1072C>T (p.Arg358Cys)	MYO1D (R358C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163392	NM_015194.3(MYO1D):c.1063A>C (p.Ile355Leu)	MYO1D (I355L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408572	NM_015194.3(MYO1D):c.1015G>A (p.Gly339Ser)	MYO1D (G339S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542366	NM_015194.3(MYO1D):c.971G>A (p.Arg324His)	MYO1D (R324H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163512	NM_015194.3(MYO1D):c.875A>G (p.Glu292Gly)	MYO1D (E204G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491682	NM_015194.3(MYO1D):c.847G>A (p.Val283Ile)	MYO1D (V195I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720886	NM_015194.3(MYO1D):c.797C>G (p.Thr266Arg)	MYO1D (T266R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2553695	NM_015194.3(MYO1D):c.655C>G (p.Leu219Val)	MYO1D (L131V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588449	NM_015194.3(MYO1D):c.604C>T (p.His202Tyr)	MYO1D (H114Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163491	NM_015194.3(MYO1D):c.581A>C (p.Gln194Pro)	MYO1D (Q106P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496034	NM_015194.3(MYO1D):c.425A>G (p.Asn142Ser)	MYO1D (N142S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708826	NM_015194.3(MYO1D):c.408T>C (p.Asn136=)	MYO1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735413	NM_015194.3(MYO1D):c.360G>A (p.Ala120=)	MYO1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739910	NM_015194.3(MYO1D):c.305-9T>C	MYO1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3163412	NM_015194.3(MYO1D):c.119C>T (p.Thr40Met)	MYO1D (T40M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163514	NM_015194.3(MYO1D):c.96A>G (p.Arg32=)	MYO1D	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2570492	NM_015194.3(MYO1D):c.80C>T (p.Ala27Val)	MYO1D (A27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215055	NM_015194.3(MYO1D):c.71A>T (p.Glu24Val)	MYO1D (E24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163497	NM_015194.3(MYO1D):c.62C>T (p.Ser21Phe)	MYO1D (S21F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526575	GRCh37/hg19 17q11.2(chr17:30888786-31207047)	MYO1D	Copy number loss	not specified	GUncertain significance
Select item 564428	GRCh37/hg19 17q11.2(chr17:30980351-31069557)x1	MYO1D	Copy number loss	not provided	GUncertain significance

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Items: 63