"Ambry Genetics"[submitter] AND "PSAPL1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2212379	NM_001085382.2(PSAPL1):c.1550C>T (p.Ala517Val)	PSAPL1, SORCS2 (A517V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298192	NM_001085382.2(PSAPL1):c.1528T>A (p.Trp510Arg)	PSAPL1, SORCS2 (W510R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262036	NM_001085382.2(PSAPL1):c.1514G>T (p.Cys505Phe)	SORCS2, PSAPL1 (C505F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467876	NM_001085382.2(PSAPL1):c.1501G>A (p.Ala501Thr)	PSAPL1, SORCS2 (A501T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2523545	NM_001085382.2(PSAPL1):c.1475G>T (p.Ser492Ile)	PSAPL1, SORCS2 (S492I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594809	NM_001085382.2(PSAPL1):c.1411G>A (p.Gly471Ser)	PSAPL1, SORCS2 (G471S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492078	NM_001085382.2(PSAPL1):c.1403C>A (p.Ala468Asp)	PSAPL1, SORCS2 (A468D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307076	NM_001085382.2(PSAPL1):c.1349T>C (p.Ile450Thr)	PSAPL1, SORCS2 (I450T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614487	NM_001085382.2(PSAPL1):c.1274G>A (p.Gly425Asp)	PSAPL1, SORCS2 (G425D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320443	NM_001085382.2(PSAPL1):c.1250G>C (p.Arg417Pro)	PSAPL1, SORCS2 (R417P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360955	NM_001085382.2(PSAPL1):c.1180A>G (p.Ser394Gly)	PSAPL1, SORCS2 (S394G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547270	NM_001085382.2(PSAPL1):c.1156G>C (p.Glu386Gln)	PSAPL1, SORCS2 (E386Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368444	NM_001085382.2(PSAPL1):c.1126C>T (p.His376Tyr)	PSAPL1, SORCS2 (H376Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233103	NM_001085382.2(PSAPL1):c.1117C>T (p.Arg373Trp)	SORCS2, PSAPL1 (R373W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410474	NM_001085382.2(PSAPL1):c.1037C>G (p.Ser346Cys)	SORCS2, PSAPL1 (S346C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321949	NM_001085382.2(PSAPL1):c.1016T>C (p.Leu339Ser)	PSAPL1, SORCS2 (L339S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289083	NM_001085382.2(PSAPL1):c.948G>C (p.Met316Ile)	PSAPL1, SORCS2 (M316I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481901	NM_001085382.2(PSAPL1):c.910C>G (p.Leu304Val)	PSAPL1, SORCS2 (L304V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407431	NM_001085382.2(PSAPL1):c.898G>A (p.Val300Met)	PSAPL1, SORCS2 (V300M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259023	NM_001085382.2(PSAPL1):c.839C>T (p.Pro280Leu)	SORCS2, PSAPL1 (P280L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282243	NM_001085382.2(PSAPL1):c.818C>G (p.Pro273Arg)	PSAPL1, SORCS2 (P273R)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2567129	NM_001085382.2(PSAPL1):c.785G>A (p.Arg262His)	PSAPL1, SORCS2 (R262H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2593432	NM_001085382.2(PSAPL1):c.784C>T (p.Arg262Cys)	PSAPL1, SORCS2 (R262C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359132	NM_001085382.2(PSAPL1):c.782C>T (p.Ala261Val)	SORCS2, PSAPL1 (A261V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517700	NM_001085382.2(PSAPL1):c.769C>G (p.Leu257Val)	PSAPL1, SORCS2 (L257V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590279	NM_001085382.2(PSAPL1):c.727C>T (p.Pro243Ser)	PSAPL1, SORCS2 (P243S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468376	NM_001085382.2(PSAPL1):c.677A>G (p.Asn226Ser)	PSAPL1, SORCS2 (N226S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313468	NM_001085382.2(PSAPL1):c.667C>T (p.Leu223Phe)	PSAPL1, SORCS2 (L223F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370858	NM_001085382.2(PSAPL1):c.616G>A (p.Asp206Asn)	PSAPL1, SORCS2 (D206N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623352	NM_001085382.2(PSAPL1):c.602A>C (p.Asn201Thr)	PSAPL1, SORCS2 (N201T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466235	NM_001085382.2(PSAPL1):c.595C>T (p.Arg199Trp)	SORCS2, PSAPL1 (R199W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274054	NM_001085382.2(PSAPL1):c.529C>G (p.Gln177Glu)	SORCS2, PSAPL1 (Q177E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547060	NM_001085382.2(PSAPL1):c.491C>T (p.Pro164Leu)	PSAPL1, SORCS2 (P164L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483318	NM_001085382.2(PSAPL1):c.421G>C (p.Glu141Gln)	PSAPL1, SORCS2 (E141Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301134	NM_001085382.2(PSAPL1):c.319T>A (p.Cys107Ser)	SORCS2, PSAPL1 (C107S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524174	NM_001085382.2(PSAPL1):c.316G>A (p.Gly106Arg)	PSAPL1, SORCS2 (G106R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2288588	NM_001085382.2(PSAPL1):c.237C>A (p.Asn79Lys)	PSAPL1, SORCS2 (N79K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238385	NM_001085382.2(PSAPL1):c.158T>C (p.Val53Ala)	PSAPL1, SORCS2 (V53A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545100	NM_001085382.2(PSAPL1):c.133G>A (p.Ala45Thr)	PSAPL1, SORCS2 (A45T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455308	NM_001085382.2(PSAPL1):c.130G>A (p.Gly44Arg)	PSAPL1, SORCS2 (G44R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299942	NM_001085382.2(PSAPL1):c.77G>A (p.Cys26Tyr)	PSAPL1, SORCS2 (C26Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 41