7598[HGNC] - ClinVar

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Items: 90

	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 3297798	NM_015194.3(MYO1D):c.2813A>G (p.His938Arg)	MYO1D (H938R +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 3297801	NM_015194.3(MYO1D):c.2786T>G (p.Val929Gly)	MYO1D (V929G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152797	GRCh38/hg38 17q11.2(chr17:32627478-32717335)x1	LOC129390853, MYO1D	Copy number loss	See cases	GUncertain significance
Select item 3297797	NM_015194.3(MYO1D):c.2587G>A (p.Val863Ile)	MYO1D (V775I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3297800	NM_015194.3(MYO1D):c.2224G>A (p.Glu742Lys)	MYO1D (E654K +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 3297799	NM_015194.3(MYO1D):c.1865G>A (p.Arg622His)	MYO1D (R534H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297795	NM_015194.3(MYO1D):c.1840G>A (p.Gly614Arg)	MYO1D (G614R +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 3297796	NM_015194.3(MYO1D):c.1597C>T (p.Arg533Cys)	MYO1D (R445C +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 3297804	NM_015194.3(MYO1D):c.1046A>T (p.Glu349Val)	MYO1D (E349V +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 3297803	NM_015194.3(MYO1D):c.952C>T (p.Arg318Trp)	MYO1D (R230W +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 3297794	NM_015194.3(MYO1D):c.649C>T (p.Arg217Cys)	MYO1D (R217C +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 3239347	NM_015194.3(MYO1D):c.439G>A (p.Ala147Thr)	MYO1D (A147T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297793	NM_015194.3(MYO1D):c.434T>C (p.Leu145Ser)	MYO1D (L145S +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 3297792	NM_015194.3(MYO1D):c.241A>G (p.Ile81Val)	MYO1D (I81V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3163427	NM_015194.3(MYO1D):c.16A>G (p.Ser6Gly)	MYO1D, MYO1D-DT (S6G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2684843	GRCh37/hg19 17q11.2(chr17:30579124-30861865)x3	C17orf75, CDK5R1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1526575	GRCh37/hg19 17q11.2(chr17:30888786-31207047)	MYO1D	Copy number loss	not specified	GUncertain significance
Select item 1526573	GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)	ASIC2, C17orf75 +8 more	Copy number loss	not specified	GUncertain significance
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	LRRC37B, CDK5R1 +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564428	GRCh37/hg19 17q11.2(chr17:30980351-31069557)x1	MYO1D	Copy number loss	not provided	GUncertain significance
Select item 564427	GRCh37/hg19 17q11.2(chr17:30484937-31108798)x3	MYO1D, PSMD11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 90