SORCS3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 149250	GRCh38/hg38 10q25.1(chr10:104077161-108350985)x3	CFAP43, CFAP58 +51 more	Copy number gain	See cases	GUncertain significance
Select item 721118	NM_014978.3(SORCS3):c.35G>A (p.Arg12Lys)	SORCS3 (R12K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3167586	NM_014978.3(SORCS3):c.59C>G (p.Thr20Arg)	SORCS3 (T20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786584	NM_014978.3(SORCS3):c.94G>A (p.Gly32Ser)	SORCS3 (G32S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2294465	NM_014978.3(SORCS3):c.115G>A (p.Ala39Thr)	SORCS3 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355081	NM_014978.3(SORCS3):c.134G>A (p.Arg45His)	SORCS3 (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274759	NM_014978.3(SORCS3):c.137C>T (p.Pro46Leu)	SORCS3 (P46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336279	NM_014978.3(SORCS3):c.152C>T (p.Ser51Leu)	SORCS3 (S51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388265	NM_014978.3(SORCS3):c.238G>C (p.Val80Leu)	SORCS3 (V80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049838	NM_014978.3(SORCS3):c.250C>A (p.Arg84=)	SORCS3	Single nucleotide variant (synonymous variant)	SORCS3-related disorder	GLikely benign
Select item 2336280	NM_014978.3(SORCS3):c.264G>T (p.Glu88Asp)	SORCS3 (E88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276455	NM_014978.3(SORCS3):c.306G>C (p.Gln102His)	SORCS3 (Q102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225281	NM_014978.3(SORCS3):c.320G>T (p.Gly107Val)	SORCS3 (G107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225282	NM_014978.3(SORCS3):c.322A>T (p.Thr108Ser)	SORCS3 (T108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321494	NM_014978.3(SORCS3):c.368C>T (p.Ala123Val)	SORCS3 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321487	NM_014978.3(SORCS3):c.390G>T (p.Arg130Ser)	SORCS3 (R130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321488	NM_014978.3(SORCS3):c.391A>C (p.Ser131Arg)	SORCS3 (S131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321499	NM_014978.3(SORCS3):c.428G>C (p.Gly143Ala)	SORCS3 (G143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321493	NM_014978.3(SORCS3):c.481G>A (p.Ala161Thr)	SORCS3 (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167584	NM_014978.3(SORCS3):c.505A>C (p.Lys169Gln)	SORCS3 (K169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321503	NM_014978.3(SORCS3):c.508G>A (p.Ala170Thr)	SORCS3 (A170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324486	NM_014978.3(SORCS3):c.523G>A (p.Gly175Arg)	SORCS3 (G175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483865	NM_014978.3(SORCS3):c.555C>A (p.Ser185Arg)	SORCS3 (S185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558398	NM_014978.3(SORCS3):c.581C>T (p.Ser194Leu)	SORCS3 (S194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167585	NM_014978.3(SORCS3):c.589A>T (p.Asn197Tyr)	SORCS3 (N197Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302544	NM_014978.3(SORCS3):c.595G>T (p.Ala199Ser)	SORCS3 (A199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321497	NM_014978.3(SORCS3):c.605A>G (p.His202Arg)	SORCS3 (H202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321491	NM_014978.3(SORCS3):c.608G>T (p.Trp203Leu)	SORCS3 (W203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152831	GRCh38/hg38 10q25.1(chr10:104738435-104950156)x1	LOC126861029, SORCS3	Copy number loss	See cases	GUncertain significance
Select item 148241	GRCh38/hg38 10q25.1(chr10:104738435-105050135)x1	LOC126861029, SORCS3	Copy number loss	See cases	GUncertain significance
Select item 768388	NM_014978.3(SORCS3):c.696-10T>G	SORCS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2521663	NM_014978.3(SORCS3):c.739G>A (p.Val247Met)	SORCS3 (V247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167587	NM_014978.3(SORCS3):c.808A>T (p.Ser270Cys)	SORCS3 (S270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469053	NM_014978.3(SORCS3):c.874C>T (p.Arg292Trp)	SORCS3 (R292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236813	NM_014978.3(SORCS3):c.877C>T (p.Leu293Phe)	SORCS3 (L293F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593070	NM_014978.3(SORCS3):c.945G>C (p.Leu315Phe)	SORCS3 (L315F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041404	NM_014978.3(SORCS3):c.967A>G (p.Met323Val)	SORCS3 (M323V)	Single nucleotide variant (missense variant)	SORCS3-related disorder	GLikely benign
Select item 2596805	NM_014978.3(SORCS3):c.1031C>T (p.Ser344Leu)	SORCS3 (S344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167570	NM_014978.3(SORCS3):c.1055C>T (p.Ala352Val)	SORCS3 (A352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770592	NM_014978.3(SORCS3):c.1056G>A (p.Ala352=)	SORCS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2317604	NM_014978.3(SORCS3):c.1057G>A (p.Asp353Asn)	SORCS3 (D353N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321492	NM_014978.3(SORCS3):c.1078C>T (p.Arg360Trp)	SORCS3 (R360W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784166	NM_014978.3(SORCS3):c.1131C>T (p.Ala377=)	SORCS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3321500	NM_014978.3(SORCS3):c.1192G>A (p.Asp398Asn)	SORCS3 (D398N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322328	NM_014978.3(SORCS3):c.1196A>C (p.Glu399Ala)	SORCS3 (E399A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321495	NM_014978.3(SORCS3):c.1262C>T (p.Ala421Val)	SORCS3 (A421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349938	NM_014978.3(SORCS3):c.1327G>A (p.Glu443Lys)	SORCS3 (E443K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167571	NM_014978.3(SORCS3):c.1476G>T (p.Leu492Phe)	SORCS3 (L492F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709986	NM_014978.3(SORCS3):c.1528G>A (p.Asp510Asn)	SORCS3 (D510N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2322329	NM_014978.3(SORCS3):c.1589C>T (p.Pro530Leu)	SORCS3 (P530L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618876	NM_014978.3(SORCS3):c.1628T>A (p.Leu543Gln)	SORCS3 (L543Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167573	NM_014978.3(SORCS3):c.1790G>C (p.Gly597Ala)	SORCS3 (G597A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210935	NM_014978.3(SORCS3):c.1831G>A (p.Val611Ile)	SORCS3 (V611I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390357	NM_014978.3(SORCS3):c.1861G>A (p.Val621Met)	SORCS3 (V621M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345951	NM_014978.3(SORCS3):c.1935G>C (p.Lys645Asn)	SORCS3 (K645N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640818	NM_014978.3(SORCS3):c.1980G>A (p.Val660=)	SORCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528980	NM_014978.3(SORCS3):c.1999C>T (p.His667Tyr)	SORCS3 (H667Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399231	NM_014978.3(SORCS3):c.2002A>C (p.Ile668Leu)	SORCS3 (I668L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220932	NM_014978.3(SORCS3):c.2033G>C (p.Arg678Pro)	SORCS3 (R678P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608301	NM_014978.3(SORCS3):c.2063A>G (p.Tyr688Cys)	SORCS3 (Y688C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640819	NM_014978.3(SORCS3):c.2080C>A (p.Arg694=)	SORCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361684	NM_014978.3(SORCS3):c.2119C>T (p.Leu707Phe)	SORCS3 (L707F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592859	NM_014978.3(SORCS3):c.2134C>G (p.Pro712Ala)	SORCS3 (P712A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056365	NM_014978.3(SORCS3):c.2400C>A (p.Asn800Lys)	SORCS3 (N800K)	Single nucleotide variant (missense variant)	SORCS3-related disorder	GLikely benign
Select item 2239375	NM_014978.3(SORCS3):c.2431G>A (p.Ala811Thr)	SORCS3 (A811T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279146	NM_014978.3(SORCS3):c.2464C>T (p.Arg822Trp)	SORCS3 (R822W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404352	NM_014978.3(SORCS3):c.2465G>A (p.Arg822Gln)	SORCS3 (R822Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167574	NM_014978.3(SORCS3):c.2533A>G (p.Ile845Val)	SORCS3 (I845V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630770	NM_014978.3(SORCS3):c.2545G>A (p.Glu849Lys)	SORCS3 (E849K)	Single nucleotide variant (missense variant)	SORCS3-related disorder	GUncertain significance
Select item 2549905	NM_014978.3(SORCS3):c.2633G>T (p.Gly878Val)	SORCS3 (G878V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321496	NM_014978.3(SORCS3):c.2686G>A (p.Glu896Lys)	SORCS3 (E896K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640820	NM_014978.3(SORCS3):c.2691C>T (p.Asn897=)	SORCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223127	NM_014978.3(SORCS3):c.2695C>G (p.Leu899Val)	SORCS3 (L899V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167575	NM_014978.3(SORCS3):c.2776A>G (p.Ile926Val)	SORCS3 (I926V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547276	NM_014978.3(SORCS3):c.2780G>T (p.Arg927Ile)	SORCS3 (R927I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555704	NM_014978.3(SORCS3):c.2785A>G (p.Lys929Glu)	SORCS3 (K929E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321489	NM_014978.3(SORCS3):c.2797A>G (p.Ile933Val)	SORCS3 (I933V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167578	NM_014978.3(SORCS3):c.2912C>G (p.Ala971Gly)	SORCS3 (A971G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167577	NM_014978.3(SORCS3):c.2912C>A (p.Ala971Glu)	SORCS3 (A971E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219528	NM_014978.3(SORCS3):c.2923G>A (p.Asp975Asn)	SORCS3 (D975N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325345	NM_014978.3(SORCS3):c.3064A>G (p.Arg1022Gly)	SORCS3 (R1022G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546746	NM_014978.3(SORCS3):c.3094G>A (p.Ala1032Thr)	SORCS3 (A1032T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 804148	NM_014978.3(SORCS3):c.3110C>G (p.Thr1037Ser)	SORCS3 (T1037S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3167579	NM_014978.3(SORCS3):c.3193A>G (p.Asn1065Asp)	SORCS3 (N1065D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777648	NM_014978.3(SORCS3):c.3297G>A (p.Pro1099=)	SORCS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3321502	NM_014978.3(SORCS3):c.3409G>T (p.Gly1137Cys)	SORCS3 (G1137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321498	NM_014978.3(SORCS3):c.3472C>G (p.Gln1158Glu)	SORCS3 (Q1158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774209	NM_014978.3(SORCS3):c.3515G>A (p.Ser1172Asn)	SORCS3 (S1172N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3167581	NM_014978.3(SORCS3):c.3532C>T (p.Pro1178Ser)	SORCS3 (P1178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785329	NM_014978.3(SORCS3):c.3558G>A (p.Thr1186=)	SORCS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2209963	NM_014978.3(SORCS3):c.3593C>T (p.Thr1198Met)	SORCS3 (T1198M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513912	NM_014978.3(SORCS3):c.3596G>A (p.Arg1199Gln)	SORCS3 (R1199Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291785	NM_014978.3(SORCS3):c.3602T>G (p.Ile1201Arg)	SORCS3 (I1201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167582	NM_014978.3(SORCS3):c.3632A>G (p.Glu1211Gly)	SORCS3 (E1211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167583	NM_014978.3(SORCS3):c.3633A>C (p.Glu1211Asp)	SORCS3 (E1211D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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