ClinVar for Gene (Select 3709) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344997	NM_002223.4(ITPR2):c.782del (p.His261fs)	ITPR2 (H261fs)	Deletion (frameshift variant)	ITPR2-related disorder	GUncertain significance
Select item 3286999	NM_002223.4(ITPR2):c.485A>G (p.Tyr162Cys)	ITPR2 (Y162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286998	NM_002223.4(ITPR2):c.2264A>G (p.Gln755Arg)	ITPR2 (Q754R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286997	NM_002223.4(ITPR2):c.1117A>G (p.Thr373Ala)	ITPR2 (T372A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286996	NM_002223.4(ITPR2):c.4388A>G (p.Asn1463Ser)	ITPR2 (N1462S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286995	NM_002223.4(ITPR2):c.805C>T (p.Arg269Cys)	ITPR2 (R269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286994	NM_002223.4(ITPR2):c.1030C>A (p.Arg344Ser)	ITPR2 (R343S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286993	NM_002223.4(ITPR2):c.7088A>G (p.His2363Arg)	ITPR2 (H2362R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286991	NM_002223.4(ITPR2):c.2872C>T (p.Pro958Ser)	ITPR2 (P958S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286990	NM_002223.4(ITPR2):c.224C>T (p.Ala75Val)	ITPR2 (A75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286989	NM_002223.4(ITPR2):c.3868G>A (p.Glu1290Lys)	ITPR2 (E1289K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286988	NM_002223.4(ITPR2):c.1208T>G (p.Ile403Ser)	ITPR2 (I402S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286987	NM_002223.4(ITPR2):c.5552G>C (p.Arg1851Thr)	ITPR2 (R1850T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111781	NM_002223.4(ITPR2):c.955A>G (p.Asn319Asp)	ITPR2 (N319D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111780	NM_002223.4(ITPR2):c.878G>T (p.Arg293Leu)	ITPR2 (R293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111779	NM_002223.4(ITPR2):c.797C>T (p.Thr266Met)	ITPR2 (T266M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111778	NM_002223.4(ITPR2):c.7964C>T (p.Ser2655Leu)	ITPR2 (S2582L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111777	NM_002223.4(ITPR2):c.7589T>A (p.Ile2530Asn)	ITPR2 (I2457N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111776	NM_002223.4(ITPR2):c.7375C>G (p.Pro2459Ala)	ITPR2 (P2459A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111775	NM_002223.4(ITPR2):c.6613A>G (p.Asn2205Asp)	ITPR2 (N2204D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111773	NM_002223.4(ITPR2):c.6103G>A (p.Asp2035Asn)	ITPR2 (D2035N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111772	NM_002223.4(ITPR2):c.5716G>A (p.Ala1906Thr)	ITPR2 (A1905T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111771	NM_002223.4(ITPR2):c.5708A>C (p.Glu1903Ala)	ITPR2 (E1903A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111770	NM_002223.4(ITPR2):c.5513A>G (p.Asp1838Gly)	ITPR2 (D1837G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111769	NM_002223.4(ITPR2):c.5321G>C (p.Gly1774Ala)	ITPR2 (G1773A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111768	NM_002223.4(ITPR2):c.4993G>A (p.Glu1665Lys)	ITPR2 (E1664K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111767	NM_002223.4(ITPR2):c.4958T>C (p.Met1653Thr)	ITPR2 (M1652T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111765	NM_002223.4(ITPR2):c.4929C>A (p.Ser1643Arg)	ITPR2 (S1643R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111764	NM_002223.4(ITPR2):c.4590A>C (p.Lys1530Asn)	ITPR2 (K1529N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111763	NM_002223.4(ITPR2):c.4219G>C (p.Val1407Leu)	ITPR2 (V1407L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111762	NM_002223.4(ITPR2):c.3913C>T (p.Arg1305Cys)	ITPR2 (R1304C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111761	NM_002223.4(ITPR2):c.3690G>T (p.Lys1230Asn)	ITPR2 (K1229N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111759	NM_002223.4(ITPR2):c.3595T>G (p.Cys1199Gly)	ITPR2 (C1198G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111758	NM_002223.4(ITPR2):c.2990A>G (p.Lys997Arg)	ITPR2 (K996R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111757	NM_002223.4(ITPR2):c.2533G>A (p.Val845Ile)	ITPR2 (V844I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111756	NM_002223.4(ITPR2):c.2437A>G (p.Ile813Val)	ITPR2 (I813V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111755	NM_002223.4(ITPR2):c.2426C>A (p.Thr809Lys)	ITPR2 (T809K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111754	NM_002223.4(ITPR2):c.2396G>A (p.Arg799His)	ITPR2 (R798H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111752	NM_002223.4(ITPR2):c.2061C>A (p.Asp687Glu)	ITPR2 (D686E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111751	NM_002223.4(ITPR2):c.2035A>G (p.Met679Val)	ITPR2 (M679V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111750	NM_002223.4(ITPR2):c.1538A>T (p.Asn513Ile)	ITPR2 (N512I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111749	NM_002223.4(ITPR2):c.1476A>T (p.Glu492Asp)	ITPR2 (E491D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3060706	NM_002223.4(ITPR2):c.2694C>T (p.Ala898=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GBenign
Select item 3059940	NM_002223.4(ITPR2):c.2262A>C (p.Thr754=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GBenign
Select item 3059684	NM_002223.4(ITPR2):c.279+6G>C	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GBenign
Select item 3057471	NM_002223.4(ITPR2):c.6336C>G (p.Ala2112=)	ITPR2	Single nucleotide variant (synonymous variant +1 more)	ITPR2-related disorder	GLikely benign
Select item 3055783	NM_002223.4(ITPR2):c.1905A>G (p.Ser635=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GBenign
Select item 3055465	NM_002223.4(ITPR2):c.2590-8_2590-7dup	ITPR2	Duplication (intron variant)	ITPR2-related disorder	GBenign
Select item 3053351	NM_002223.4(ITPR2):c.3552+3C>T	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GLikely benign
Select item 3051841	NM_002223.4(ITPR2):c.5583G>C (p.Glu1861Asp)	ITPR2 (E1860D +1 more)	Single nucleotide variant (missense variant)	ITPR2-related disorder	GLikely benign
Select item 3050840	NM_002223.4(ITPR2):c.2445A>G (p.Glu815=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3046509	NM_002223.4(ITPR2):c.2316C>T (p.Phe772=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3040542	NM_002223.4(ITPR2):c.6096C>T (p.Tyr2032=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3039900	NM_002223.4(ITPR2):c.4381-8C>T	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GLikely benign
Select item 3038755	NM_002223.4(ITPR2):c.2826C>T (p.Ser942=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3038559	NM_002223.4(ITPR2):c.6309T>C (p.Asp2103=)	ITPR2	Single nucleotide variant (synonymous variant +1 more)	ITPR2-related disorder	GLikely benign
Select item 3037589	NM_002223.4(ITPR2):c.495G>A (p.Pro165=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3033955	NM_002223.4(ITPR2):c.5874T>C (p.Phe1958=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3033587	NM_002223.4(ITPR2):c.3122+4T>C	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GLikely benign
Select item 3027139	NM_002223.4(ITPR2):c.5541T>A (p.Gly1847=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642806	NM_002223.4(ITPR2):c.3588T>C (p.Asn1196=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642805	NM_002223.4(ITPR2):c.3824G>A (p.Arg1275Gln)	ITPR2 (R1274Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642804	NM_002223.4(ITPR2):c.4134G>C (p.Leu1378=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642803	NM_002223.4(ITPR2):c.6468G>A (p.Arg2156=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614320	NM_002223.4(ITPR2):c.7987C>G (p.Leu2663Val)	ITPR2 (L2662V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609353	NM_002223.4(ITPR2):c.6521G>A (p.Arg2174Gln)	ITPR2 (R2174Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608029	NM_002223.4(ITPR2):c.3289G>A (p.Val1097Met)	ITPR2 (V1097M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579735	NM_002223.4(ITPR2):c.3655C>A (p.Leu1219Ile)	ITPR2 (L1218I +1 more)	Single nucleotide variant (missense variant)	Isolated anhidrosis with normal sweat glands	GUncertain significance
Select item 2570480	NM_002223.4(ITPR2):c.7763A>G (p.Asn2588Ser)	ITPR2 (N2587S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554409	NM_002223.4(ITPR2):c.4205C>T (p.Pro1402Leu)	ITPR2 (P1401L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551667	NM_002223.4(ITPR2):c.1696G>A (p.Asp566Asn)	ITPR2 (D566N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550223	NM_002223.4(ITPR2):c.7328T>G (p.Met2443Arg)	ITPR2 (M2442R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544039	NM_002223.4(ITPR2):c.7004G>A (p.Arg2335His)	ITPR2 (R2334H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539550	NM_002223.4(ITPR2):c.3604C>G (p.Gln1202Glu)	ITPR2 (Q1202E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539168	NM_002223.4(ITPR2):c.3834C>G (p.Phe1278Leu)	ITPR2 (F1278L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533980	NM_002223.4(ITPR2):c.2963G>A (p.Arg988Lys)	ITPR2 (R987K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533094	NM_002223.4(ITPR2):c.4493A>G (p.Asn1498Ser)	ITPR2 (N1498S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531501	NM_002223.4(ITPR2):c.5215G>A (p.Gly1739Arg)	ITPR2 (G1738R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521141	NM_002223.4(ITPR2):c.2110C>G (p.Pro704Ala)	ITPR2 (P704A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514087	NM_002223.4(ITPR2):c.4760G>A (p.Arg1587His)	ITPR2 (R1586H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495849	NM_002223.4(ITPR2):c.8087A>T (p.His2696Leu)	ITPR2 (H2696L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494616	NM_002223.4(ITPR2):c.683C>T (p.Ser228Phe)	ITPR2 (S228F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486166	NM_002223.4(ITPR2):c.2111C>T (p.Pro704Leu)	ITPR2 (P704L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481383	NM_002223.4(ITPR2):c.3737G>C (p.Cys1246Ser)	ITPR2 (C1245S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480632	NM_002223.4(ITPR2):c.580C>T (p.His194Tyr)	ITPR2 (H194Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480531	NM_002223.4(ITPR2):c.2324G>A (p.Arg775Gln)	ITPR2 (R775Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479311	NM_002223.4(ITPR2):c.1663C>T (p.Leu555Phe)	ITPR2 (L554F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473798	NM_002223.4(ITPR2):c.3706A>C (p.Asn1236His)	ITPR2 (N1236H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471942	NM_002223.4(ITPR2):c.498C>G (p.Phe166Leu)	ITPR2 (F166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470059	NM_002223.4(ITPR2):c.7645A>G (p.Ser2549Gly)	ITPR2 (S2476G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469686	NM_002223.4(ITPR2):c.187A>G (p.Met63Val)	ITPR2 (M63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461003	NM_002223.4(ITPR2):c.5135T>A (p.Val1712Glu)	ITPR2 (V1711E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2411537	NM_002223.4(ITPR2):c.7918G>A (p.Asp2640Asn)	ITPR2 (D2567N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409309	NM_002223.4(ITPR2):c.4631C>T (p.Ala1544Val)	ITPR2 (A1543V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408523	NM_002223.4(ITPR2):c.6778T>C (p.Ser2260Pro)	ITPR2 (S2187P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405574	NM_002223.4(ITPR2):c.5948C>T (p.Ala1983Val)	ITPR2 (A1982V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391967	NM_002223.4(ITPR2):c.1031G>A (p.Arg344His)	ITPR2 (R344H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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