SRGAP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 144395	GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3	CAV3, GRM7 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 57696	GRCh38/hg38 3p26.1-25.3(chr3:7975734-9038133)x3	CAV3, LINC00312 +23 more	Copy number gain	See cases	GUncertain significance
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 151834	GRCh38/hg38 3p25.3(chr3:8320124-9395968)x1	CAV3, LINC00312 +36 more	Copy number loss	See cases	GPathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	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 729518	NM_014850.4(SRGAP3):c.3241G>A (p.Val1081Met)	SRGAP3 (V1057M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 732946	NM_014850.4(SRGAP3):c.3222G>A (p.Ser1074=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 739455	NM_014850.4(SRGAP3):c.3132C>T (p.Ser1044=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 782421	NM_014850.4(SRGAP3):c.3036C>T (p.Pro1012=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2653469	NM_014850.4(SRGAP3):c.2871C>T (p.Ala957=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708765	NM_014850.4(SRGAP3):c.2817G>A (p.Ser939=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 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 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 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 729048	NM_014850.4(SRGAP3):c.2680A>G (p.Ser894Gly)	SRGAP3 (S870G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 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 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 3048506	NM_014850.4(SRGAP3):c.2634C>A (p.Gly878=)	SRGAP3	Single nucleotide variant (synonymous variant)	SRGAP3-related disorder	GLikely benign
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 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 1209979	NM_014850.4(SRGAP3):c.2554G>A (p.Gly852Ser)	SRGAP3 (G828S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758081	NM_014850.4(SRGAP3):c.2543G>A (p.Gly848Glu)	SRGAP3 (G824E +1 more)	Single nucleotide variant (missense 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 +1 more	GBenign
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 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 714171	NM_014850.4(SRGAP3):c.2376C>T (p.Leu792=)	SRGAP3	Single nucleotide variant (synonymous variant)	SRGAP3-related disorder +1 more	GBenign
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 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 752657	NM_014850.4(SRGAP3):c.2334G>A (p.Ser778=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 748819	NM_014850.4(SRGAP3):c.2228-6T>C	SRGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 732286	NM_014850.4(SRGAP3):c.2163C>T (p.Ser721=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 725228	NM_014850.4(SRGAP3):c.1919+9C>G	SRGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 773569	NM_014850.4(SRGAP3):c.1905C>T (p.Phe635=)	SRGAP3	Single nucleotide variant (synonymous variant)	SRGAP3-related disorder +1 more	GLikely benign
Select item 725709	NM_014850.4(SRGAP3):c.1882A>G (p.Ile628Val)	SRGAP3 (I604V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 786766	NM_014850.4(SRGAP3):c.1860C>T (p.Leu620=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789466	NM_014850.4(SRGAP3):c.1698C>T (p.Asp566=)	SRGAP3	Single nucleotide variant (synonymous variant)	SRGAP3-related disorder +1 more	GLikely benign
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 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 775843	NM_014850.4(SRGAP3):c.1563T>G (p.Leu521=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 3169969	NM_014850.4(SRGAP3):c.1417G>A (p.Ala473Thr)	SRGAP3 (A473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056662	NM_014850.4(SRGAP3):c.1408+10C>G	SRGAP3	Single nucleotide variant (intron variant)	SRGAP3-related disorder	GBenign
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 2495868	NM_014850.4(SRGAP3):c.1353C>A (p.Asn451Lys)	SRGAP3 (N451K)	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 2220358	NM_014850.4(SRGAP3):c.1286G>A (p.Arg429Lys)	SRGAP3 (R429K)	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 723236	NM_014850.4(SRGAP3):c.1212C>T (p.His404=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2355552	NM_014850.4(SRGAP3):c.1112T>C (p.Ile371Thr)	SRGAP3 (I371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775844	NM_014850.4(SRGAP3):c.975C>G (p.Val325=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 720298	NM_014850.4(SRGAP3):c.971A>T (p.Gln324Leu)	SRGAP3 (Q324L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3055684	NM_014850.4(SRGAP3):c.969T>C (p.Asn323=)	SRGAP3	Single nucleotide variant (synonymous variant)	SRGAP3-related disorder	GBenign
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 2512708	NM_014850.4(SRGAP3):c.935G>A (p.Arg312Gln)	SRGAP3 (R312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785998	NM_014850.4(SRGAP3):c.870C>T (p.Asn290=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 798291	NM_014850.4(SRGAP3):c.798C>T (p.Ile266=)	SRGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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