"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYO1E"[ge - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058806	NM_004998.4(MYO1E):c.3251-3C>T	MYO1E	Single nucleotide variant (intron variant)	MYO1E-related condition	GLikely benign
Select item 3054339	NM_004998.4(MYO1E):c.2985G>A (p.Pro995=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition	GLikely benign
Select item 737078	NM_004998.4(MYO1E):c.2640G>A (p.Lys880=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 871066	NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg)	MYO1E (T876R)	Single nucleotide variant (missense variant)	MYO1E-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1490401	NM_004998.4(MYO1E):c.2446A>G (p.Ile816Val)	MYO1E (I816V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3047083	NM_004998.4(MYO1E):c.1998C>T (p.Ser666=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition	GLikely benign
Select item 1592383	NM_004998.4(MYO1E):c.1805+7G>A	MYO1E	Single nucleotide variant (intron variant)	MYO1E-related condition +2 more	GLikely benign
Select item 1630946	NM_004998.4(MYO1E):c.1770C>T (p.Asn590=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition +2 more	GLikely benign
Select item 1600020	NM_004998.4(MYO1E):c.1734A>G (p.Lys578=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1001311	NM_004998.4(MYO1E):c.1713C>G (p.Asp571Glu)	MYO1E (D571E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 807265	NM_004998.4(MYO1E):c.1615C>A (p.Leu539Met)	MYO1E (L539M)	Single nucleotide variant (missense variant)	MYO1E-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3048782	NM_004998.4(MYO1E):c.1416G>A (p.Ala472=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition	GLikely benign
Select item 3055493	NM_004998.4(MYO1E):c.1356C>T (p.Asn452=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition	GLikely benign
Select item 2185163	NM_004998.4(MYO1E):c.1344C>T (p.Asp448=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition +1 more	GBenign/Likely benign
Select item 727632	NM_004998.4(MYO1E):c.1239G>A (p.Gln413=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition +1 more	GLikely benign
Select item 1669741	NM_004998.4(MYO1E):c.1155C>T (p.Gly385=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition +1 more	GLikely benign
Select item 1120668	NM_004998.4(MYO1E):c.1135C>G (p.His379Asp)	MYO1E (H379D)	Single nucleotide variant (missense variant)	MYO1E-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3035482	NM_004998.4(MYO1E):c.1032C>T (p.Asn344=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition	GLikely benign
Select item 3042804	NM_004998.4(MYO1E):c.976C>T (p.Arg326Trp)	MYO1E (R326W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 1154662	NM_004998.4(MYO1E):c.910+4C>T	MYO1E	Single nucleotide variant (intron variant)	MYO1E-related condition +1 more	GLikely benign
Select item 3046369	NM_004998.4(MYO1E):c.720C>T (p.Leu240=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition	GLikely benign
Select item 1038242	NM_004998.4(MYO1E):c.701A>G (p.Tyr234Cys)	MYO1E (Y234C)	Single nucleotide variant (missense variant)	MYO1E-related condition +2 more	GUncertain significance
Select item 3035865	NM_004998.4(MYO1E):c.645C>T (p.Leu215=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition	GLikely benign
Select item 2983683	NM_004998.4(MYO1E):c.516A>G (p.Lys172=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition +1 more	GLikely benign
Select item 3032100	NM_004998.4(MYO1E):c.511-12_511-10del	MYO1E	Deletion (intron variant)	MYO1E-related condition	GLikely benign
Select item 3029361	NM_004998.4(MYO1E):c.420+9G>A	MYO1E	Single nucleotide variant (intron variant)	MYO1E-related condition	GLikely benign
Select item 595079	NM_004998.4(MYO1E):c.333-12_333-9del	MYO1E	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1164448	NM_004998.4(MYO1E):c.321C>T (p.Cys107=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition +1 more	GBenign/Likely benign
Select item 730911	NM_004998.4(MYO1E):c.153T>C (p.Tyr51=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition +1 more	GConflicting classifications of pathogenicity

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Items: 29