PSAPL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 150343	GRCh38/hg38 4p16.1(chr4:7237156-7730219)x3	LOC112978667, MIR4274 +3 more	Copy number gain	See cases	GLikely benign
Select item 2212379	NM_001085382.2(PSAPL1):c.1550C>T (p.Ala517Val)	PSAPL1, SORCS2 (A517V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298192	NM_001085382.2(PSAPL1):c.1528T>A (p.Trp510Arg)	PSAPL1, SORCS2 (W510R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262036	NM_001085382.2(PSAPL1):c.1514G>T (p.Cys505Phe)	PSAPL1, SORCS2 (C505F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467876	NM_001085382.2(PSAPL1):c.1501G>A (p.Ala501Thr)	PSAPL1, SORCS2 (A501T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2654635	NM_001085382.2(PSAPL1):c.1485C>T (p.Ala495=)	SORCS2, PSAPL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2523545	NM_001085382.2(PSAPL1):c.1475G>T (p.Ser492Ile)	PSAPL1, SORCS2 (S492I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594809	NM_001085382.2(PSAPL1):c.1411G>A (p.Gly471Ser)	PSAPL1, SORCS2 (G471S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492078	NM_001085382.2(PSAPL1):c.1403C>A (p.Ala468Asp)	PSAPL1, SORCS2 (A468D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220117	NM_001085382.2(PSAPL1):c.1378G>A (p.Val460Met)	PSAPL1, SORCS2 (V460M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307076	NM_001085382.2(PSAPL1):c.1349T>C (p.Ile450Thr)	PSAPL1, SORCS2 (I450T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220116	NM_001085382.2(PSAPL1):c.1324G>A (p.Val442Ile)	PSAPL1, SORCS2 (V442I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614487	NM_001085382.2(PSAPL1):c.1274G>A (p.Gly425Asp)	PSAPL1, SORCS2 (G425D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320443	NM_001085382.2(PSAPL1):c.1250G>C (p.Arg417Pro)	PSAPL1, SORCS2 (R417P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360955	NM_001085382.2(PSAPL1):c.1180A>G (p.Ser394Gly)	PSAPL1, SORCS2 (S394G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220115	NM_001085382.2(PSAPL1):c.1177G>A (p.Gly393Ser)	PSAPL1, SORCS2 (G393S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547270	NM_001085382.2(PSAPL1):c.1156G>C (p.Glu386Gln)	PSAPL1, SORCS2 (E386Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368444	NM_001085382.2(PSAPL1):c.1126C>T (p.His376Tyr)	PSAPL1, SORCS2 (H376Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233103	NM_001085382.2(PSAPL1):c.1117C>T (p.Arg373Trp)	PSAPL1, SORCS2 (R373W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410474	NM_001085382.2(PSAPL1):c.1037C>G (p.Ser346Cys)	PSAPL1, SORCS2 (S346C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321949	NM_001085382.2(PSAPL1):c.1016T>C (p.Leu339Ser)	PSAPL1, SORCS2 (L339S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289083	NM_001085382.2(PSAPL1):c.948G>C (p.Met316Ile)	PSAPL1, SORCS2 (M316I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481901	NM_001085382.2(PSAPL1):c.910C>G (p.Leu304Val)	PSAPL1, SORCS2 (L304V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407431	NM_001085382.2(PSAPL1):c.898G>A (p.Val300Met)	PSAPL1, SORCS2 (V300M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654636	NM_001085382.2(PSAPL1):c.897C>T (p.Asn299=)	PSAPL1, SORCS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2259023	NM_001085382.2(PSAPL1):c.839C>T (p.Pro280Leu)	PSAPL1, SORCS2 (P280L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282243	NM_001085382.2(PSAPL1):c.818C>G (p.Pro273Arg)	PSAPL1, SORCS2 (P273R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567129	NM_001085382.2(PSAPL1):c.785G>A (p.Arg262His)	PSAPL1, SORCS2 (R262H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2593432	NM_001085382.2(PSAPL1):c.784C>T (p.Arg262Cys)	PSAPL1, SORCS2 (R262C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359132	NM_001085382.2(PSAPL1):c.782C>T (p.Ala261Val)	PSAPL1, SORCS2 (A261V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517700	NM_001085382.2(PSAPL1):c.769C>G (p.Leu257Val)	PSAPL1, SORCS2 (L257V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220124	NM_001085382.2(PSAPL1):c.751G>T (p.Gly251Trp)	PSAPL1, SORCS2 (G251W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590279	NM_001085382.2(PSAPL1):c.727C>T (p.Pro243Ser)	PSAPL1, SORCS2 (P243S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220123	NM_001085382.2(PSAPL1):c.680A>C (p.Tyr227Ser)	PSAPL1, SORCS2 (Y227S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468376	NM_001085382.2(PSAPL1):c.677A>G (p.Asn226Ser)	PSAPL1, SORCS2 (N226S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313468	NM_001085382.2(PSAPL1):c.667C>T (p.Leu223Phe)	PSAPL1, SORCS2 (L223F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370858	NM_001085382.2(PSAPL1):c.616G>A (p.Asp206Asn)	PSAPL1, SORCS2 (D206N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623352	NM_001085382.2(PSAPL1):c.602A>C (p.Asn201Thr)	PSAPL1, SORCS2 (N201T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466235	NM_001085382.2(PSAPL1):c.595C>T (p.Arg199Trp)	PSAPL1, SORCS2 (R199W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220122	NM_001085382.2(PSAPL1):c.578G>A (p.Arg193Gln)	PSAPL1, SORCS2 (R193Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2274054	NM_001085382.2(PSAPL1):c.529C>G (p.Gln177Glu)	PSAPL1, SORCS2 (Q177E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220121	NM_001085382.2(PSAPL1):c.526C>T (p.Arg176Cys)	PSAPL1, SORCS2 (R176C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547060	NM_001085382.2(PSAPL1):c.491C>T (p.Pro164Leu)	PSAPL1, SORCS2 (P164L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220120	NM_001085382.2(PSAPL1):c.425C>T (p.Pro142Leu)	PSAPL1, SORCS2 (P142L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483318	NM_001085382.2(PSAPL1):c.421G>C (p.Glu141Gln)	PSAPL1, SORCS2 (E141Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220119	NM_001085382.2(PSAPL1):c.377C>G (p.Pro126Arg)	PSAPL1, SORCS2 (P126R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301134	NM_001085382.2(PSAPL1):c.319T>A (p.Cys107Ser)	PSAPL1, SORCS2 (C107S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524174	NM_001085382.2(PSAPL1):c.316G>A (p.Gly106Arg)	PSAPL1, SORCS2 (G106R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2288588	NM_001085382.2(PSAPL1):c.237C>A (p.Asn79Lys)	PSAPL1, SORCS2 (N79K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238385	NM_001085382.2(PSAPL1):c.158T>C (p.Val53Ala)	PSAPL1, SORCS2 (V53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220118	NM_001085382.2(PSAPL1):c.154G>A (p.Ala52Thr)	PSAPL1, SORCS2 (A52T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545100	NM_001085382.2(PSAPL1):c.133G>A (p.Ala45Thr)	PSAPL1, SORCS2 (A45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455308	NM_001085382.2(PSAPL1):c.130G>A (p.Gly44Arg)	PSAPL1, SORCS2 (G44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299942	NM_001085382.2(PSAPL1):c.77G>A (p.Cys26Tyr)	PSAPL1, SORCS2 (C26Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	JAKMIP1, KIAA0232 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685957	GRCh37/hg19 4p16.1(chr4:7422235-7752486)x3	PSAPL1, SORCS2	Copy number gain	not provided	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ABLIM2, ACOX3 +132 more	Copy number loss	not provided	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1807874	GRCh37/hg19 4p16.1(chr4:7432891-7817872)x1	AFAP1, PSAPL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic

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