CLASP2[gene] and "single gene"[properties] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2337784	NM_001365631.1(CLASP2):c.4486G>C (p.Ala1496Pro)	CLASP2 (A1263P +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037568	NM_001365631.1(CLASP2):c.4383G>A (p.Ala1461=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GBenign
Select item 3047500	NM_001365631.1(CLASP2):c.4326T>C (p.Asp1442=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 747470	NM_001365631.1(CLASP2):c.4257G>A (p.Glu1419=)	CLASP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145309	NM_001365631.1(CLASP2):c.4220A>T (p.Asn1407Ile)	CLASP2 (N1160I +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390556	NM_001365631.1(CLASP2):c.4208A>G (p.Asp1403Gly)	CLASP2 (D1161G +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279373	NM_001365631.1(CLASP2):c.4141G>C (p.Val1381Leu)	CLASP2 (V1134L +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391260	NM_001365631.1(CLASP2):c.3914T>G (p.Phe1305Cys)	CLASP2 (F1057C +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041004	NM_001365631.1(CLASP2):c.3881A>G (p.Tyr1294Cys)	CLASP2 (Y1046C +44 more)	Single nucleotide variant (missense variant)	CLASP2-related disorder	GBenign
Select item 3050390	NM_001365631.1(CLASP2):c.3786C>T (p.Asp1262=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 3145307	NM_001365631.1(CLASP2):c.3683C>T (p.Ser1228Phe)	CLASP2 (S1002F +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303514	NM_001365631.1(CLASP2):c.3680G>A (p.Arg1227His)	CLASP2 (R1001H +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334806	NM_001365631.1(CLASP2):c.3677C>T (p.Pro1226Leu)	CLASP2 (P1000L +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599950	NM_001365631.1(CLASP2):c.3628C>T (p.Leu1210Phe)	CLASP2 (L1009F +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034083	NM_001365631.1(CLASP2):c.3576G>A (p.Gly1192=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 2541080	NM_001365631.1(CLASP2):c.3550G>A (p.Gly1184Ser)	CLASP2 (G1070S +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606222	NM_001365631.1(CLASP2):c.3549T>G (p.Asp1183Glu)	CLASP2 (D1002E +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555660	NM_001365631.1(CLASP2):c.3508G>A (p.Asp1170Asn)	CLASP2 (D1172N +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375304	NM_001365631.1(CLASP2):c.3497G>A (p.Arg1166His)	CLASP2 (R1151H +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040123	NM_001365631.1(CLASP2):c.3381A>G (p.Thr1127=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 3056625	NM_001365631.1(CLASP2):c.3320C>T (p.Thr1107Ile)	CLASP2 (T1092I +44 more)	Single nucleotide variant (missense variant)	CLASP2-related disorder	GBenign
Select item 3145305	NM_001365631.1(CLASP2):c.3280A>G (p.Thr1094Ala)	CLASP2 (T1080A +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145304	NM_001365631.1(CLASP2):c.3176C>T (p.Ser1059Leu)	CLASP2 (S1045L +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145303	NM_001365631.1(CLASP2):c.3164C>T (p.Ser1055Leu)	CLASP2 (S1058L +44 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145302	NM_001365631.1(CLASP2):c.2962A>G (p.Ile988Val)	CLASP2 (I1008V +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145300	NM_001365631.1(CLASP2):c.2635T>A (p.Trp879Arg)	CLASP2 (W638R +38 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039103	NM_001365631.1(CLASP2):c.2616T>C (p.Asn872=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 2245222	NM_001365631.1(CLASP2):c.2521G>A (p.Ala841Thr)	CLASP2 (A646T +38 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267509	NM_001365631.1(CLASP2):c.2456A>G (p.Lys819Arg)	CLASP2 (K572R +38 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604544	NM_001365631.1(CLASP2):c.2455-1137A>C	CLASP2 (L594F +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039137	NM_001365631.1(CLASP2):c.2455-1147C>G	CLASP2	Single nucleotide variant (intron variant)	CLASP2-related disorder	GBenign
Select item 2517645	NM_001365631.1(CLASP2):c.2332T>C (p.Ser778Pro)	CLASP2 (S537P +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029599	NM_001365631.1(CLASP2):c.2240-4C>G	CLASP2	Single nucleotide variant (intron variant)	CLASP2-related disorder	GUncertain significance
Select item 2397257	NM_001365631.1(CLASP2):c.2027C>T (p.Ser676Phe)	CLASP2 (S429F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770138	NM_001365631.1(CLASP2):c.1949-9C>T	CLASP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3145299	NM_001365631.1(CLASP2):c.1913A>G (p.Tyr638Cys)	CLASP2 (Y639C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145298	NM_001365631.1(CLASP2):c.1891G>A (p.Gly631Ser)	CLASP2 (G398S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041763	NM_001365631.1(CLASP2):c.1871G>A (p.Arg624Gln)	CLASP2 (R391Q +6 more)	Single nucleotide variant (missense variant)	CLASP2-related disorder	GBenign
Select item 2324369	NM_001365631.1(CLASP2):c.1819G>A (p.Val607Met)	CLASP2 (V380M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299163	NM_001365631.1(CLASP2):c.1819G>C (p.Val607Leu)	CLASP2 (V375L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747255	NM_001365631.1(CLASP2):c.1800T>C (p.Arg600=)	CLASP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3355567	NM_001365631.1(CLASP2):c.1694+8C>T	CLASP2	Single nucleotide variant (intron variant)	CLASP2-related disorder	GLikely benign
Select item 785037	NM_001365631.1(CLASP2):c.1632T>C (p.Ser544=)	CLASP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3040674	NM_001365631.1(CLASP2):c.1527-6dup	CLASP2	Duplication (intron variant)	CLASP2-related disorder	GLikely benign
Select item 748055	NM_001365631.1(CLASP2):c.1500C>T (p.Asp500=)	CLASP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145297	NM_001365631.1(CLASP2):c.1459G>A (p.Val487Ile)	CLASP2 (V488I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484561	NM_001365631.1(CLASP2):c.1433C>G (p.Thr478Ser)	CLASP2 (T246S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518653	NM_001365631.1(CLASP2):c.1423G>A (p.Glu475Lys)	CLASP2 (E243K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050689	NM_001365631.1(CLASP2):c.1341A>T (p.Ile447=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 2397258	NM_001365631.1(CLASP2):c.820A>G (p.Ser274Gly)	CLASP2 (S41G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412584	NM_001365631.1(CLASP2):c.738A>C (p.Glu246Asp)	CLASP2 (E19D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145310	NM_001365631.1(CLASP2):c.728A>T (p.Asp243Val)	CLASP2 (D10V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556147	NM_001365631.1(CLASP2):c.696G>A (p.Met232Ile)	CLASP2 (M232I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051071	NM_001365631.1(CLASP2):c.690C>T (p.Gly230=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 787659	NM_001365631.1(CLASP2):c.629G>A (p.Gly210Glu)	CLASP2 (G111E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2469141	NM_001365631.1(CLASP2):c.573A>G (p.Ile191Met)	CLASP2 (I191M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233335	NM_001365631.1(CLASP2):c.528T>G (p.Phe176Leu)	CLASP2 (F176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037912	NM_001365631.1(CLASP2):c.510A>G (p.Pro170=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GBenign
Select item 3056537	NM_001365631.1(CLASP2):c.488T>C (p.Leu163Pro)	CLASP2 (L163P +1 more)	Single nucleotide variant (missense variant)	CLASP2-related disorder	GBenign
Select item 2560069	NM_001365631.1(CLASP2):c.412C>T (p.His138Tyr)	CLASP2 (H39Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145301	NM_001365631.1(CLASP2):c.292G>T (p.Asp98Tyr)	CLASP2 (D98Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717181	NM_001365631.1(CLASP2):c.275-10C>T	CLASP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2516899	NM_001365631.1(CLASP2):c.263A>G (p.Tyr88Cys)	CLASP2 (Y88C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307496	NM_001365631.1(CLASP2):c.217A>G (p.Ile73Val)	CLASP2 (I73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778287	NM_001365631.1(CLASP2):c.171C>T (p.Gly57=)	CLASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2537591	NM_001365631.1(CLASP2):c.139C>A (p.Arg47Ser)	CLASP2 (R47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363203	NM_001365631.1(CLASP2):c.92A>G (p.Tyr31Cys)	CLASP2 (Y31C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269163	NM_001365631.1(CLASP2):c.82C>T (p.Leu28Phe)	CLASP2 (L28F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267510	NM_001365631.1(CLASP2):c.56G>A (p.Gly19Asp)	CLASP2 (G19D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267511	NM_001365631.1(CLASP2):c.50A>G (p.Asp17Gly)	CLASP2 (D17G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263435	NM_001365631.1(CLASP2):c.37G>A (p.Val13Met)	CLASP2 (V13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 71