ClinVar for Gene (Select 57537) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 3167569	NM_020777.3(SORCS2):c.85C>T (p.Arg29Cys)	SORCS2 (R29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167568	NM_020777.3(SORCS2):c.70G>A (p.Ala24Thr)	SORCS2 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167567	NM_020777.3(SORCS2):c.652A>G (p.Ile218Val)	SORCS2 (I218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167566	NM_020777.3(SORCS2):c.610A>G (p.Ile204Val)	SORCS2 (I204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167565	NM_020777.3(SORCS2):c.53G>A (p.Arg18Gln)	SORCS2 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167564	NM_020777.3(SORCS2):c.464C>T (p.Thr155Met)	SORCS2 (T155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167563	NM_020777.3(SORCS2):c.3469C>G (p.Leu1157Val)	SORCS2 (L1157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167562	NM_020777.3(SORCS2):c.3430G>A (p.Val1144Met)	SORCS2 (V1144M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167561	NM_020777.3(SORCS2):c.3175C>T (p.Arg1059Trp)	SORCS2 (R1059W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167560	NM_020777.3(SORCS2):c.3118G>T (p.Ala1040Ser)	SORCS2 (A1040S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167559	NM_020777.3(SORCS2):c.3019G>A (p.Val1007Met)	SORCS2 (V1007M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167558	NM_020777.3(SORCS2):c.2792C>T (p.Thr931Met)	SORCS2 (T931M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167557	NM_020777.3(SORCS2):c.2637G>T (p.Glu879Asp)	SORCS2 (E879D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167556	NM_020777.3(SORCS2):c.2536G>A (p.Gly846Ser)	SORCS2 (G846S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167555	NM_020777.3(SORCS2):c.2413C>T (p.Arg805Trp)	SORCS2 (R805W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167553	NM_020777.3(SORCS2):c.1426G>A (p.Asp476Asn)	SORCS2 (D476N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167552	NM_020777.3(SORCS2):c.1310C>T (p.Ala437Val)	SORCS2 (A437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167551	NM_020777.3(SORCS2):c.1294C>T (p.Arg432Cys)	SORCS2 (R432C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167550	NM_020777.3(SORCS2):c.1294C>A (p.Arg432Ser)	SORCS2 (R432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167549	NM_020777.3(SORCS2):c.1264G>T (p.Val422Leu)	SORCS2 (V422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167548	NM_020777.3(SORCS2):c.1022C>A (p.Pro341His)	SORCS2 (P341H)	Single nucleotide variant (missense variant)	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 2654638	NM_020777.3(SORCS2):c.3237C>A (p.Gly1079=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654637	NM_020777.3(SORCS2):c.2511C>T (p.Pro837=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2654634	NM_020777.3(SORCS2):c.83CGCGCTCGC[3] (p.Ser33_Arg34insProArgSer)	SORCS2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2654633	NM_020777.3(SORCS2):c.59C>G (p.Pro20Arg)	SORCS2 (P20R)	Single nucleotide variant (missense variant)	not provided	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 2620571	NM_020777.3(SORCS2):c.2227G>A (p.Gly743Ser)	SORCS2 (G743S)	Single nucleotide variant (missense variant)	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 2602597	NM_020777.3(SORCS2):c.3137A>G (p.Asn1046Ser)	SORCS2 (N1046S)	Single nucleotide variant (missense variant)	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 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 2592767	NM_020777.3(SORCS2):c.1550T>C (p.Val517Ala)	SORCS2 (V517A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590652	NM_020777.3(SORCS2):c.2516G>A (p.Arg839Gln)	SORCS2 (R839Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590591	NM_020777.3(SORCS2):c.1196T>C (p.Val399Ala)	SORCS2 (V399A)	Single nucleotide variant (missense variant)	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 2590262	NM_020777.3(SORCS2):c.235G>A (p.Gly79Ser)	SORCS2 (G79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588629	NM_020777.3(SORCS2):c.1102G>A (p.Val368Ile)	SORCS2 (V368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588522	NM_020777.3(SORCS2):c.703G>A (p.Ala235Thr)	SORCS2 (A235T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	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 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	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 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 2556985	NM_020777.3(SORCS2):c.1582A>G (p.Met528Val)	SORCS2 (M528V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550391	NM_020777.3(SORCS2):c.2942G>A (p.Arg981Lys)	SORCS2 (R981K)	Single nucleotide variant (missense variant)	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 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 2546420	NM_020777.3(SORCS2):c.3260T>C (p.Phe1087Ser)	SORCS2 (F1087S)	Single nucleotide variant (missense variant)	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 2538402	NM_020777.3(SORCS2):c.44C>T (p.Pro15Leu)	SORCS2 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534615	NM_020777.3(SORCS2):c.158C>T (p.Pro53Leu)	SORCS2 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534614	NM_020777.3(SORCS2):c.131G>C (p.Gly44Ala)	SORCS2 (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530593	NM_020777.3(SORCS2):c.2372C>T (p.Ala791Val)	SORCS2 (A791V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528862	NM_020777.3(SORCS2):c.1400C>T (p.Thr467Met)	SORCS2 (T467M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525674	NM_020777.3(SORCS2):c.1170G>C (p.Gln390His)	SORCS2 (Q390H)	Single nucleotide variant (missense variant)	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 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 2522664	NM_020777.3(SORCS2):c.3229G>A (p.Gly1077Ser)	SORCS2 (G1077S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521014	NM_020777.3(SORCS2):c.2090G>A (p.Arg697His)	SORCS2 (R697H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519485	NM_020777.3(SORCS2):c.2527G>A (p.Glu843Lys)	SORCS2 (E843K)	Single nucleotide variant (missense variant)	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 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 2486882	NM_020777.3(SORCS2):c.188A>C (p.Gln63Pro)	SORCS2 (Q63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484275	NM_020777.3(SORCS2):c.1577T>C (p.Leu526Pro)	SORCS2 (L526P)	Single nucleotide variant (missense variant)	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 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 2478298	NM_020777.3(SORCS2):c.3049C>G (p.Leu1017Val)	SORCS2 (L1017V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468864	NM_020777.3(SORCS2):c.1793C>T (p.Thr598Met)	SORCS2 (T598M)	Single nucleotide variant (missense variant)	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 2468166	NM_020777.3(SORCS2):c.1160A>G (p.Lys387Arg)	SORCS2 (K387R)	Single nucleotide variant (missense variant)	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 2467203	NM_020777.3(SORCS2):c.2786C>T (p.Ser929Leu)	SORCS2 (S929L)	Single nucleotide variant (missense variant)	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 2462400	NM_020777.3(SORCS2):c.1045G>A (p.Val349Met)	SORCS2 (V349M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461609	NM_020777.3(SORCS2):c.2968C>T (p.Arg990Trp)	SORCS2 (R990W)	Single nucleotide variant (missense variant)	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 2454203	NM_020777.3(SORCS2):c.2419G>A (p.Glu807Lys)	SORCS2 (E807K)	Single nucleotide variant (missense variant)	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 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 2405922	NM_020777.3(SORCS2):c.2546G>A (p.Arg849His)	SORCS2 (R849H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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