SORCS2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2282348	NM_020777.3(SORCS2):c.8A>C (p.His3Pro)	SORCS2 (H3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287883	NM_020777.3(SORCS2):c.35G>T (p.Gly12Val)	SORCS2 (G12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351925	NM_020777.3(SORCS2):c.37C>T (p.Pro13Ser)	SORCS2 (P13S)	Single nucleotide variant (missense variant)	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 2394200	NM_020777.3(SORCS2):c.46A>C (p.Thr16Pro)	SORCS2 (T16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387650	NM_020777.3(SORCS2):c.47C>G (p.Thr16Ser)	SORCS2 (T16S)	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 2343094	NM_020777.3(SORCS2):c.56C>A (p.Ala19Asp)	SORCS2 (A19D)	Single nucleotide variant (missense variant)	not specified	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 3167568	NM_020777.3(SORCS2):c.70G>A (p.Ala24Thr)	SORCS2 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654634	NM_020777.3(SORCS2):c.83CGCGCTCGC[3] (p.Ser33_Arg34insProArgSer)	SORCS2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2343066	NM_020777.3(SORCS2):c.79C>T (p.Pro27Ser)	SORCS2 (P27S)	Single nucleotide variant (missense variant)	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 2310860	NM_020777.3(SORCS2):c.98C>T (p.Ser33Leu)	SORCS2 (S33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321484	NM_020777.3(SORCS2):c.127C>A (p.Leu43Met)	SORCS2 (L43M)	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 2534615	NM_020777.3(SORCS2):c.158C>T (p.Pro53Leu)	SORCS2 (P53L)	Single nucleotide variant (missense variant)	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 3321476	NM_020777.3(SORCS2):c.217G>A (p.Ala73Thr)	SORCS2 (A73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305472	NM_020777.3(SORCS2):c.220G>A (p.Gly74Arg)	SORCS2 (G74R)	Single nucleotide variant (missense variant)	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 2378781	NM_020777.3(SORCS2):c.437C>G (p.Thr146Arg)	SORCS2 (T146R)	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 2218160	NM_020777.3(SORCS2):c.497C>T (p.Thr166Met)	SORCS2 (T166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217960	NM_020777.3(SORCS2):c.510C>G (p.His170Gln)	SORCS2 (H170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321482	NM_020777.3(SORCS2):c.566C>T (p.Thr189Met)	SORCS2 (T189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787024	NM_020777.3(SORCS2):c.600C>G (p.Val200=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3167567	NM_020777.3(SORCS2):c.652A>G (p.Ile218Val)	SORCS2 (I218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213150	NM_020777.3(SORCS2):c.680G>A (p.Arg227Gln)	SORCS2 (R227Q)	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 788778	NM_020777.3(SORCS2):c.792C>T (p.Leu264=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2382464	NM_020777.3(SORCS2):c.853C>A (p.Leu285Met)	SORCS2 (L285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346059	NM_020777.3(SORCS2):c.959G>A (p.Arg320Gln)	SORCS2 (R320Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351322	NM_020777.3(SORCS2):c.1004C>T (p.Thr335Ile)	SORCS2 (T335I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232472	NM_020777.3(SORCS2):c.1014C>G (p.Phe338Leu)	SORCS2 (F338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714240	NM_020777.3(SORCS2):c.1014C>T (p.Phe338=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3321480	NM_020777.3(SORCS2):c.1015G>A (p.Ala339Thr)	SORCS2 (A339T)	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 2274286	NM_020777.3(SORCS2):c.1030C>T (p.His344Tyr)	SORCS2 (H344Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246461	NM_020777.3(SORCS2):c.1032C>A (p.His344Gln)	SORCS2 (H344Q)	Single nucleotide variant (missense variant)	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 3321485	NM_020777.3(SORCS2):c.1095A>T (p.Lys365Asn)	SORCS2 (K365N)	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 2468166	NM_020777.3(SORCS2):c.1160A>G (p.Lys387Arg)	SORCS2 (K387R)	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 2590591	NM_020777.3(SORCS2):c.1196T>C (p.Val399Ala)	SORCS2 (V399A)	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 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 2379351	NM_020777.3(SORCS2):c.1295G>A (p.Arg432His)	SORCS2 (R432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321481	NM_020777.3(SORCS2):c.1303C>T (p.Arg435Trp)	SORCS2 (R435W)	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 2304501	NM_020777.3(SORCS2):c.1363T>C (p.Phe455Leu)	SORCS2 (F455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256678	NM_020777.3(SORCS2):c.1381A>C (p.Ile461Leu)	SORCS2 (I461L)	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 2276563	NM_020777.3(SORCS2):c.1424G>A (p.Arg475His)	SORCS2 (R475H)	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 2306437	NM_020777.3(SORCS2):c.1466G>T (p.Gly489Val)	SORCS2 (G489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712546	NM_020777.3(SORCS2):c.1524A>C (p.Ala508=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2320239	NM_020777.3(SORCS2):c.1544G>T (p.Gly515Val)	SORCS2 (G515V)	Single nucleotide variant (missense variant)	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 2484275	NM_020777.3(SORCS2):c.1577T>C (p.Leu526Pro)	SORCS2 (L526P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 786883	NM_020777.3(SORCS2):c.1707C>T (p.His569=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319226	NM_020777.3(SORCS2):c.1720G>A (p.Val574Met)	SORCS2 (V574M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221368	NM_020777.3(SORCS2):c.1780C>T (p.Leu594Phe)	SORCS2 (L594F)	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 2360945	NM_020777.3(SORCS2):c.1814C>T (p.Ser605Leu)	SORCS2 (S605L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769285	NM_020777.3(SORCS2):c.1851C>T (p.Asp617=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769627	NM_020777.3(SORCS2):c.1990-9C>T	SORCS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2269437	NM_020777.3(SORCS2):c.1993G>A (p.Asp665Asn)	SORCS2 (D665N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237022	NM_020777.3(SORCS2):c.1997G>A (p.Arg666His)	SORCS2 (R666H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349092	NM_020777.3(SORCS2):c.2016G>C (p.Gln672His)	SORCS2 (Q672H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321477	NM_020777.3(SORCS2):c.2021G>A (p.Ser674Asn)	SORCS2 (S674N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363797	NM_020777.3(SORCS2):c.2078C>T (p.Ala693Val)	SORCS2 (A693V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319636	NM_020777.3(SORCS2):c.2087C>T (p.Ser696Phe)	SORCS2 (S696F)	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 715971	NM_020777.3(SORCS2):c.2091C>T (p.Arg697=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222204	NM_020777.3(SORCS2):c.2098G>A (p.Glu700Lys)	SORCS2 (E700K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2347796	NM_020777.3(SORCS2):c.2127C>G (p.Asp709Glu)	SORCS2 (D709E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321486	NM_020777.3(SORCS2):c.2149T>G (p.Ser717Ala)	SORCS2 (S717A)	Single nucleotide variant (missense variant)	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 789996	NM_020777.3(SORCS2):c.2234C>T (p.Thr745Ile)	SORCS2 (T745I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2227970	NM_020777.3(SORCS2):c.2333C>T (p.Thr778Met)	SORCS2 (T778M)	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 3167555	NM_020777.3(SORCS2):c.2413C>T (p.Arg805Trp)	SORCS2 (R805W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364634	NM_020777.3(SORCS2):c.2414G>A (p.Arg805Gln)	SORCS2 (R805Q)	Single nucleotide variant (missense variant)	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 2221087	NM_020777.3(SORCS2):c.2485G>A (p.Val829Met)	SORCS2 (V829M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654637	NM_020777.3(SORCS2):c.2511C>T (p.Pro837=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2519485	NM_020777.3(SORCS2):c.2527G>A (p.Glu843Lys)	SORCS2 (E843K)	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 2405922	NM_020777.3(SORCS2):c.2546G>A (p.Arg849His)	SORCS2 (R849H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321478	NM_020777.3(SORCS2):c.2609A>C (p.Asn870Thr)	SORCS2 (N870T)	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 2467203	NM_020777.3(SORCS2):c.2786C>T (p.Ser929Leu)	SORCS2 (S929L)	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 730549	NM_020777.3(SORCS2):c.2835G>A (p.Ser945=)	SORCS2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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