Related gene-specific medical variations for Gene (Select 4644) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243836	NC_000015.9:g.(?_52635294)_(52635414_?)del	MYO5A	Deletion	not provided	GUncertain significance
Select item 3063584	NM_001382347.1(MYO5A):c.5034C>G (p.Ile1678Met)	MYO5A (I1626M +5 more)	Single nucleotide variant (missense variant)	Griscelli syndrome type 1	GUncertain significance
Select item 3063583	NM_001382347.1(MYO5A):c.2438G>A (p.Arg813His)	MYO5A (R813H +1 more)	Single nucleotide variant (missense variant)	Griscelli syndrome type 1	GUncertain significance
Select item 3018601	NM_001382347.1(MYO5A):c.27+10C>T	LOC130057090, MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010004	NM_001382347.1(MYO5A):c.2208+14C>T	LOC130057087, MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915645	NM_001382347.1(MYO5A):c.2208+8T>C	LOC130057087, MYO5A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2433970	NM_001382347.1(MYO5A):c.2527G>A (p.Val843Ile)	MYO5A (V843I +1 more)	Single nucleotide variant (missense variant)	Griscelli syndrome type 1	GUncertain significance
Select item 2433968	NM_001382347.1(MYO5A):c.1930C>T (p.His644Tyr)	MYO5A (H644Y +1 more)	Single nucleotide variant (missense variant)	Griscelli syndrome type 1	GUncertain significance
Select item 2318524	NM_001382347.1(MYO5A):c.2155G>A (p.Val719Met)	LOC130057087, MYO5A (V743M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191007	NM_001382347.1(MYO5A):c.11C>T (p.Ser4Leu)	LOC130057090, MYO5A (S4L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2158069	NM_001382347.1(MYO5A):c.18C>G (p.Leu6=)	LOC130057090, MYO5A	Single nucleotide variant (synonymous variant +1 more)	MYO5A-related disorder +1 more	GBenign/Likely benign
Select item 1641120	NM_001382347.1(MYO5A):c.27+20G>A	LOC130057090, MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244419	NM_001382347.1(MYO5A):c.2208+38G>A	LOC130057087, MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235107	NM_001382347.1(MYO5A):c.27+73G>A	LOC130057090, MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178737	NM_001382347.1(MYO5A):c.27+191G>C	LOC130057090, MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 975609	NM_001382347.1(MYO5A):c.1194T>A (p.Asn398Lys)	MYO5A (N398K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975608	NM_001382347.1(MYO5A):c.2481G>T (p.Met827Ile)	MYO5A (M827I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 815715	GRCh37/hg19 15q21.2(chr15:52658406-52803756)x1	MYO5A	Copy number loss	not provided	GUncertain significance
Select item 546756	NM_001382347.1(MYO5A):c.855dup (p.Asn286Ter)	MYO5A (N286* +1 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 100805	NM_001382347.1(MYO5A):c.2573G>T (p.Arg858Leu)	MYO5A (R858L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14070	MYO5A, 47-BP INS, NT4634	MYO5A	Insertion	Griscelli syndrome type 1	GPathogenic

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Links from Gene

Items: 21