ClinVar for Gene (Select 9901) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351680	NM_014850.4(SRGAP3):c.1443del (p.Cys482fs)	SRGAP3 (C482fs)	Deletion (frameshift variant +1 more)	SRGAP3-related disorder	GUncertain significance
Select item 3344798	NM_014850.4(SRGAP3):c.3238G>T (p.Ala1080Ser)	SRGAP3 (A1056S +1 more)	Single nucleotide variant (missense variant)	SRGAP3-related disorder	GUncertain significance
Select item 3322636	NM_014850.4(SRGAP3):c.1588A>T (p.Ile530Phe)	SRGAP3 (I506F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322635	NM_014850.4(SRGAP3):c.3257A>T (p.Lys1086Met)	SRGAP3 (K1062M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322634	NM_014850.4(SRGAP3):c.1501C>T (p.His501Tyr)	SRGAP3 (H501Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322633	NM_014850.4(SRGAP3):c.3289G>A (p.Gly1097Ser)	SRGAP3 (G1073S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322632	NM_014850.4(SRGAP3):c.1886T>C (p.Val629Ala)	SRGAP3 (V605A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3169984	NM_014850.4(SRGAP3):c.96C>G (p.Phe32Leu)	SRGAP3 (F32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169983	NM_014850.4(SRGAP3):c.661A>C (p.Met221Leu)	SRGAP3 (M221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169982	NM_014850.4(SRGAP3):c.632G>A (p.Arg211His)	SRGAP3 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169981	NM_014850.4(SRGAP3):c.386C>A (p.Ser129Tyr)	SRGAP3 (S129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169980	NM_014850.4(SRGAP3):c.3178G>T (p.Val1060Leu)	SRGAP3 (V1060L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169979	NM_014850.4(SRGAP3):c.2761G>A (p.Gly921Ser)	SRGAP3 (G897S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169978	NM_014850.4(SRGAP3):c.2663G>A (p.Arg888Gln)	SRGAP3 (R864Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169977	NM_014850.4(SRGAP3):c.2600G>A (p.Arg867Gln)	SRGAP3 (R843Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169976	NM_014850.4(SRGAP3):c.236G>A (p.Arg79His)	SRGAP3 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169975	NM_014850.4(SRGAP3):c.2276C>G (p.Ser759Cys)	SRGAP3 (S735C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169974	NM_014850.4(SRGAP3):c.224C>T (p.Ser75Phe)	SRGAP3 (S75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169973	NM_014850.4(SRGAP3):c.1992G>T (p.Met664Ile)	SRGAP3 (M640I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169972	NM_014850.4(SRGAP3):c.1906G>A (p.Ala636Thr)	SRGAP3 (A612T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169971	NM_014850.4(SRGAP3):c.1598A>G (p.Tyr533Cys)	SRGAP3 (Y509C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169969	NM_014850.4(SRGAP3):c.1417G>A (p.Ala473Thr)	SRGAP3 (A473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3057847	NM_014850.4(SRGAP3):c.1164G>A (p.Gln388=)	SRGAP3	Single nucleotide variant (synonymous variant)	SRGAP3-related disorder	GLikely benign
Select item 3056662	NM_014850.4(SRGAP3):c.1408+10C>G	SRGAP3	Single nucleotide variant (intron variant)	SRGAP3-related disorder	GBenign
Select item 3055684	NM_014850.4(SRGAP3):c.969T>C (p.Asn323=)	SRGAP3	Single nucleotide variant (synonymous variant)	SRGAP3-related disorder	GBenign
Select item 3048506	NM_014850.4(SRGAP3):c.2634C>A (p.Gly878=)	SRGAP3	Single nucleotide variant (synonymous variant)	SRGAP3-related disorder	GLikely benign
Select item 3033934	NM_014850.4(SRGAP3):c.858A>T (p.Ser286=)	SRGAP3	Single nucleotide variant (synonymous variant)	SRGAP3-related disorder	GLikely benign
Select item 2685905	GRCh37/hg19 3p25.3(chr3:9094788-9413416)x3	SRGAP3, THUMPD3	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2653470	NM_014850.4(SRGAP3):c.958G>A (p.Asp320Asn)	SRGAP3 (D320N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653469	NM_014850.4(SRGAP3):c.2871C>T (p.Ala957=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636741	NM_014850.4(SRGAP3):c.2164G>A (p.Glu722Lys)	SRGAP3 (E698K +1 more)	Single nucleotide variant (missense variant)	SRGAP3-related disorder	GUncertain significance
Select item 2629106	NM_014850.4(SRGAP3):c.3070G>A (p.Ala1024Thr)	SRGAP3 (A1000T +1 more)	Single nucleotide variant (missense variant)	SRGAP3-related disorder	GUncertain significance
Select item 2615772	NM_014850.4(SRGAP3):c.2654C>T (p.Thr885Ile)	SRGAP3 (T885I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612722	NM_014850.4(SRGAP3):c.2075C>T (p.Ala692Val)	SRGAP3 (A692V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602461	NM_014850.4(SRGAP3):c.2353C>T (p.Arg785Trp)	SRGAP3 (R785W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589239	NM_014850.4(SRGAP3):c.2179G>A (p.Asp727Asn)	SRGAP3 (D703N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2549964	NM_014850.4(SRGAP3):c.710C>T (p.Thr237Ile)	SRGAP3 (T237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546015	NM_014850.4(SRGAP3):c.763A>G (p.Ser255Gly)	SRGAP3 (S255G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544681	NM_014850.4(SRGAP3):c.2374C>G (p.Leu792Val)	SRGAP3 (L792V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537938	NM_014850.4(SRGAP3):c.2732A>G (p.Lys911Arg)	SRGAP3 (K887R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524896	NM_014850.4(SRGAP3):c.1470G>T (p.Met490Ile)	SRGAP3 (M490I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512708	NM_014850.4(SRGAP3):c.935G>A (p.Arg312Gln)	SRGAP3 (R312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509379	NM_014850.4(SRGAP3):c.85G>A (p.Val29Met)	SRGAP3 (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495868	NM_014850.4(SRGAP3):c.1353C>A (p.Asn451Lys)	SRGAP3 (N451K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481820	NM_014850.4(SRGAP3):c.2425G>C (p.Asp809His)	SRGAP3 (D809H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481664	NM_014850.4(SRGAP3):c.2695A>T (p.Ile899Phe)	SRGAP3 (I875F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476573	NM_014850.4(SRGAP3):c.2242G>C (p.Glu748Gln)	SRGAP3 (E724Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473026	NM_014850.4(SRGAP3):c.1397C>T (p.Thr466Ile)	SRGAP3 (T466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471228	NM_014850.4(SRGAP3):c.3070G>T (p.Ala1024Ser)	SRGAP3 (A1000S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462574	NM_014850.4(SRGAP3):c.3163C>T (p.Pro1055Ser)	SRGAP3 (P1031S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456935	NM_014850.4(SRGAP3):c.623G>A (p.Arg208Gln)	SRGAP3 (R208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423657	NC_000003.11:g.(?_6903076)_(9517775_?)del	CAV3, GRM7 +8 more	Deletion	not provided	GPathogenic
Select item 2407554	NM_014850.4(SRGAP3):c.2735G>A (p.Arg912Gln)	SRGAP3 (R912Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400363	NM_014850.4(SRGAP3):c.1453C>T (p.Pro485Ser)	SRGAP3 (P485S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396162	NM_014850.4(SRGAP3):c.779A>G (p.His260Arg)	SRGAP3 (H260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370366	NM_014850.4(SRGAP3):c.376G>A (p.Val126Ile)	SRGAP3 (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361257	NM_014850.4(SRGAP3):c.2409G>A (p.Met803Ile)	SRGAP3 (M779I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355552	NM_014850.4(SRGAP3):c.1112T>C (p.Ile371Thr)	SRGAP3 (I371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347597	NM_014850.4(SRGAP3):c.2125A>G (p.Met709Val)	SRGAP3 (M709V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339654	NM_014850.4(SRGAP3):c.1672G>C (p.Glu558Gln)	SRGAP3 (E558Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336057	NM_014850.4(SRGAP3):c.96C>A (p.Phe32Leu)	SRGAP3 (F32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320045	NM_014850.4(SRGAP3):c.445A>C (p.Met149Leu)	SRGAP3 (M149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312231	NM_014850.4(SRGAP3):c.437G>A (p.Gly146Asp)	SRGAP3 (G146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297044	NM_014850.4(SRGAP3):c.3196C>T (p.His1066Tyr)	SRGAP3 (H1066Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291496	NM_014850.4(SRGAP3):c.1263C>G (p.Ser421Arg)	SRGAP3 (S421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270179	NM_014850.4(SRGAP3):c.718C>T (p.Arg240Trp)	SRGAP3 (R240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269973	NM_014850.4(SRGAP3):c.3272G>T (p.Ser1091Ile)	SRGAP3 (S1067I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253334	NM_014850.4(SRGAP3):c.63A>G (p.Ile21Met)	SRGAP3 (I21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249238	NM_014850.4(SRGAP3):c.2662C>T (p.Arg888Trp)	SRGAP3 (R864W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229818	NM_014850.4(SRGAP3):c.3166C>A (p.Pro1056Thr)	SRGAP3 (P1032T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220358	NM_014850.4(SRGAP3):c.1286G>A (p.Arg429Lys)	SRGAP3 (R429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216452	NM_014850.4(SRGAP3):c.1322C>T (p.Thr441Ile)	SRGAP3 (T441I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204987	NM_014850.4(SRGAP3):c.2579G>C (p.Gly860Ala)	SRGAP3 (G860A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809128	GRCh37/hg19 3p25.3(chr3:9113024-9477562)x3	SETD5, SRGAP3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1706499	GRCh37/hg19 3p26.1-25.3(chr3:7694117-9546173)x1	SRGAP3, SSUH2 +9 more	Copy number loss	See cases	GPathogenic
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1412633	NC_000003.11:g.(?_8775563)_(9986075_?)dup	ARPC4, ARPC4-TTLL3 +20 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1209979	NM_014850.4(SRGAP3):c.2554G>A (p.Gly852Ser)	SRGAP3 (G828S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 982231	NM_014850.4(SRGAP3):c.2281C>T (p.Arg761Cys)	SRGAP3 (R737C +1 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 980631	GRCh37/hg19 3p25.3(chr3:8745819-9043663)x3	RAD18, CAV3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 930697	NM_014850.4(SRGAP3):c.3077G>A (p.Arg1026His)	SRGAP3 (R1002H +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 832860	NC_000003.11:g.(?_8775553)_(9730776_?)dup	CAV3, LHFPL4 +6 more	Duplication	Long QT syndrome	GUncertain significance
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 814421	GRCh37/hg19 3p26.1-25.3(chr3:7172720-9545741)x3	THUMPD3, GRM7 +9 more	Copy number gain	not provided	GUncertain significance
Select item 798291	NM_014850.4(SRGAP3):c.798C>T (p.Ile266=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790643	NM_014850.4(SRGAP3):c.2535C>T (p.Tyr845=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign

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