"Blueprint Genetics"[submitter] AND "MERTK"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 865867	NM_006343.3(MERTK):c.61+3G>C	MERTK	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 866432	NM_006343.3(MERTK):c.263C>T (p.Ser88Leu)	MERTK (S88L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636044	NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)	MERTK (C115W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 865904	NM_006343.3(MERTK):c.368_369del (p.Tyr123fs)	MERTK (Y123fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865846	NM_006343.3(MERTK):c.604C>T (p.Gln202Ter)	MERTK (Q202*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 197784	NM_006343.3(MERTK):c.791C>G (p.Ala264Gly)	MERTK (A264G)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866880	NM_006343.3(MERTK):c.842A>C (p.Lys281Thr)	MERTK (K281T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866972	NM_006343.3(MERTK):c.1296+2dup	MERTK	Duplication (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330755	NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)	MERTK (V469F)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 5401	NM_006343.3(MERTK):c.1605-2A>G	MERTK	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 865891	NM_006343.3(MERTK):c.1650del (p.Ile550fs)	MERTK (I550fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866874	NM_006343.3(MERTK):c.1670G>C (p.Arg557Pro)	MERTK (R557P)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 866904	NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter)	MERTK (R558*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 867009	NM_006343.3(MERTK):c.1744_1751delinsT (p.Val581_Ile582insTer)	MERTK	Indel (nonsense)	Retinal dystrophy	GPathogenic
Select item 866314	NM_006343.3(MERTK):c.2039A>C (p.His680Pro)	MERTK (H680P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 865869	NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs)	MERTK (L683fs)	Microsatellite (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 846255	NM_006343.3(MERTK):c.2159T>C (p.Leu720Pro)	MERTK (L720P)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866882	NM_006343.3(MERTK):c.2163T>A (p.His721Gln)	MERTK (H721Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866123	NM_006343.3(MERTK):c.2164C>G (p.Arg722Gly)	MERTK (R722G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437995	NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)	MERTK (R722*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 866075	NM_006343.3(MERTK):c.2179C>T (p.Arg727Ter)	MERTK (R727*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 866076	NM_006343.3(MERTK):c.2189_2189+7delinsGGGGA	MERTK	Indel (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 5403	NM_006343.3(MERTK):c.2189+1G>T	MERTK	Single nucleotide variant (splice donor variant)	Retinal dystrophy +4 more	GPathogenic
Select item 866612	NM_006343.3(MERTK):c.2273G>A (p.Arg758His)	MERTK (R758H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 837266	NM_006343.3(MERTK):c.2362G>A (p.Val788Met)	MERTK (V788M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 865966	NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys)	MERTK (N806K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 866433	NM_006343.3(MERTK):c.2486+6T>A	MERTK	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 843961	NM_006343.3(MERTK):c.2612T>C (p.Ile871Thr)	MERTK (I871T)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 865768	NM_006343.3(MERTK):c.2775T>C (p.His925=)	MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 866426	NM_006343.3(MERTK):c.2836T>G (p.Ser946Ala)	MERTK (S946A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

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Items: 30