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

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2283724	NM_002844.4(PTPRK):c.4268C>T (p.Pro1423Leu)	PTPRK (P1422L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603070	NM_002844.4(PTPRK):c.4195C>T (p.Arg1399Trp)	PTPRK (R1398W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494780	NM_002844.4(PTPRK):c.4186A>G (p.Met1396Val)	PTPRK (M1418V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277477	NM_002844.4(PTPRK):c.3700G>A (p.Ala1234Thr)	PTPRK (A1240T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479879	NM_002844.4(PTPRK):c.3562C>G (p.Leu1188Val)	PTPRK (L1194V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301464	NM_002844.4(PTPRK):c.3362G>A (p.Arg1121Gln)	PTPRK (R1120Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351255	NM_002844.4(PTPRK):c.2554T>C (p.Cys852Arg)	PTPRK (C868R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562917	NM_002844.4(PTPRK):c.2528G>A (p.Arg843His)	PTPRK (R842H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389992	NM_002844.4(PTPRK):c.2453T>C (p.Leu818Pro)	PTPRK (L817P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285851	NM_002844.4(PTPRK):c.2447A>T (p.Asp816Val)	PTPRK (D826V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520515	NM_002844.4(PTPRK):c.2434C>G (p.Leu812Val)	PTPRK (L812V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607318	NM_002844.4(PTPRK):c.2299C>A (p.Leu767Ile)	PTPRK (L766I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278684	NM_002844.4(PTPRK):c.2204C>T (p.Thr735Ile)	PTPRK (T606I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525593	NM_002844.4(PTPRK):c.2176G>A (p.Val726Ile)	PTPRK, PTPRK-AS1 (V597I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525497	NM_002844.4(PTPRK):c.2115A>C (p.Lys705Asn)	PTPRK, PTPRK-AS1 (K576N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542897	NM_002844.4(PTPRK):c.1920C>G (p.His640Gln)	PTPRK, PTPRK-AS1 (H511Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251329	NM_002844.4(PTPRK):c.1920C>A (p.His640Gln)	PTPRK-AS1, PTPRK (H511Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264329	NM_002844.4(PTPRK):c.1894A>G (p.Ile632Val)	PTPRK-AS1, PTPRK (I503V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456267	NM_002844.4(PTPRK):c.1385A>G (p.Asn462Ser)	PTPRK (N462S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358018	NM_002844.4(PTPRK):c.1322A>G (p.Asp441Gly)	PTPRK (D312G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532440	NM_002844.4(PTPRK):c.1313G>A (p.Ser438Asn)	PTPRK (S438N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386212	NM_002844.4(PTPRK):c.1308C>G (p.Asn436Lys)	PTPRK (N307K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510968	NM_002844.4(PTPRK):c.1135C>T (p.Pro379Ser)	PTPRK (P250S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540606	NM_002844.4(PTPRK):c.782C>T (p.Thr261Ile)	PTPRK (T261I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533825	NM_002844.4(PTPRK):c.775G>C (p.Glu259Gln)	PTPRK (E130Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400751	NM_002844.4(PTPRK):c.746G>A (p.Arg249Lys)	PTPRK (R120K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339279	NM_002844.4(PTPRK):c.674A>G (p.His225Arg)	PTPRK (H225R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396945	NM_002844.4(PTPRK):c.197A>G (p.His66Arg)	PTPRK (I28V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354587	NM_002844.4(PTPRK):c.116A>G (p.Asp39Gly)	PTPRK (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280882	NM_002844.4(PTPRK):c.67C>T (p.Leu23Phe)	PTPRK (L23F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454974	NM_002844.4(PTPRK):c.65C>T (p.Pro22Leu)	PTPRK (P22L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490712	NM_002844.4(PTPRK):c.59C>T (p.Pro20Leu)	PTPRK (P20L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247031	NM_002844.4(PTPRK):c.19G>C (p.Ala7Pro)	PTPRK (A7P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 33