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

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1490779	NM_006343.3(MERTK):c.86C>G (p.Ala29Gly)	MERTK (A29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 941700	NM_006343.3(MERTK):c.146C>T (p.Pro49Leu)	MERTK (P49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 849376	NM_006343.3(MERTK):c.207G>C (p.Gln69His)	MERTK (Q69H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2298639	NM_006343.3(MERTK):c.312A>G (p.Ile104Met)	MERTK (I104M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555684	NM_006343.3(MERTK):c.364A>G (p.Ile122Val)	MERTK (I122V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1025933	NM_006343.3(MERTK):c.475T>A (p.Ser159Thr)	MERTK (S159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 959719	NM_006343.3(MERTK):c.515C>G (p.Ser172Trp)	MERTK (S172W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 937935	NM_006343.3(MERTK):c.614G>A (p.Ser205Asn)	MERTK (S205N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2543021	NM_006343.3(MERTK):c.749C>A (p.Thr250Asn)	MERTK (T250N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609091	NM_006343.3(MERTK):c.926A>G (p.Asp309Gly)	MERTK (D309G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2062086	NM_006343.3(MERTK):c.977C>T (p.Pro326Leu)	LOC112806037, MERTK (P326L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1396995	NM_006343.3(MERTK):c.1216A>G (p.Met406Val)	MERTK (M406V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 972463	NM_006343.3(MERTK):c.1390G>A (p.Val464Ile)	MERTK (V464I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 330756	NM_006343.3(MERTK):c.1436T>A (p.Phe479Tyr)	MERTK (F479Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2365983	NM_006343.3(MERTK):c.1541T>C (p.Leu514Ser)	MERTK (L514S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 894719	NM_006343.3(MERTK):c.1691T>C (p.Leu564Ser)	MERTK (L564S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2241108	NM_006343.3(MERTK):c.1963G>A (p.Val655Met)	MERTK (V655M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1349982	NM_006343.3(MERTK):c.2039A>G (p.His680Arg)	MERTK (H680R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1441670	NM_006343.3(MERTK):c.2060G>A (p.Arg687Gln)	MERTK (R687Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 2234141	NM_006343.3(MERTK):c.2113G>C (p.Val705Leu)	MERTK (V705L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5403	NM_006343.3(MERTK):c.2189+1G>T	MERTK	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 857270	NM_006343.3(MERTK):c.2201A>T (p.Asp734Val)	MERTK (D734V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1016107	NM_006343.3(MERTK):c.2317G>A (p.Ala773Thr)	MERTK (A773T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2528694	NM_006343.3(MERTK):c.2377A>G (p.Ile793Val)	MERTK (I793V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612557	NM_006343.3(MERTK):c.2393T>A (p.Met798Lys)	MERTK (M798K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1051259	NM_006343.3(MERTK):c.2415G>C (p.Gln805His)	MERTK (Q805H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 865966	NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys)	MERTK (N806K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2621011	NM_006343.3(MERTK):c.2522C>G (p.Pro841Arg)	MERTK (P841R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1136986	NM_006343.3(MERTK):c.2809G>A (p.Glu937Lys)	MERTK (E937K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 29