3710[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 1284184	NC_000006.12:g.33621208C>A	ITPR3, LOC129996179	Single nucleotide variant	not provided	GBenign
Select item 1276370	NC_000006.12:g.33621255G>C	ITPR3, LOC129996179	Single nucleotide variant	not provided	GBenign
Select item 1246493	NM_002224.4(ITPR3):c.-48C>T	ITPR3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3111782	NM_002224.4(ITPR3):c.12G>A (p.Met4Ile)	ITPR3 (M4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388810	NM_002224.4(ITPR3):c.25C>T (p.His9Tyr)	ITPR3 (H9Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1293544	NM_002224.4(ITPR3):c.90-45G>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2397918	NM_002224.4(ITPR3):c.130G>C (p.Asp44His)	ITPR3 (D44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040710	NM_002224.4(ITPR3):c.159T>C (p.Arg53=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related disorder	GLikely benign
Select item 1220735	NM_002224.4(ITPR3):c.160+48T>C	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270368	NM_002224.4(ITPR3):c.161-34T>C	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2464990	NM_002224.4(ITPR3):c.166C>G (p.Leu56Val)	ITPR3 (L56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579482	NM_002224.4(ITPR3):c.175G>A (p.Val59Met)	ITPR3 (V59M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055735	NM_002224.4(ITPR3):c.198G>A (p.Ser66=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related disorder	GLikely benign
Select item 2264875	NM_002224.4(ITPR3):c.202C>A (p.Gln68Lys)	ITPR3 (Q68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739338	NM_002224.4(ITPR3):c.252C>T (p.Ile84=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170819	NM_002224.4(ITPR3):c.282+4TG[7]	ITPR3	Microsatellite (intron variant)	not provided	GBenign/Likely benign
Select item 1277727	NM_002224.4(ITPR3):c.282+158G>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247934	NM_002224.4(ITPR3):c.283-108del	ITPR3	Deletion (intron variant)	not provided	GBenign
Select item 1251103	NM_002224.4(ITPR3):c.283-13T>C	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3356063	NM_002224.4(ITPR3):c.283-9T>A	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related disorder	GUncertain significance
Select item 761639	NM_002224.4(ITPR3):c.288G>A (p.Ala96=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656492	NM_002224.4(ITPR3):c.309A>G (p.Gln103=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475967	NM_002224.4(ITPR3):c.322A>G (p.Asn108Asp)	ITPR3 (N108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354652	NM_002224.4(ITPR3):c.360T>G (p.Ser120Arg)	ITPR3 (S120R)	Single nucleotide variant (missense variant)	ITPR3-related disorder	GUncertain significance
Select item 3530922	NM_002224.4(ITPR3):c.379A>T (p.Met127Leu)	ITPR3 (M127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3389654	NM_002224.4(ITPR3):c.403G>T (p.Val135Leu)	ITPR3 (V135L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2285727	NM_002224.4(ITPR3):c.434A>G (p.Lys145Arg)	ITPR3 (K145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041108	NM_002224.4(ITPR3):c.438C>T (p.Asn146=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related disorder	GLikely benign
Select item 2578246	NM_002224.4(ITPR3):c.445C>T (p.Arg149Trp)	ITPR3 (R149W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, type 1J +1 more	GConflicting classifications of pathogenicity
Select item 3530924	NM_002224.4(ITPR3):c.474G>C (p.Glu158Asp)	ITPR3 (E158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3530929	NM_002224.4(ITPR3):c.512G>A (p.Arg171Gln)	ITPR3 (R171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731695	NM_002224.4(ITPR3):c.528C>T (p.Asn176=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1251010	NM_002224.4(ITPR3):c.529-81T>C	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656493	NM_002224.4(ITPR3):c.534C>T (p.Val178=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3530910	NM_002224.4(ITPR3):c.535G>A (p.Val179Met)	ITPR3 (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662875	NM_002224.4(ITPR3):c.563T>G (p.Val188Gly)	ITPR3 (V188G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2377995	NM_002224.4(ITPR3):c.613G>A (p.Ala205Thr)	ITPR3 (A205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056716	NM_002224.4(ITPR3):c.627+9G>T	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related disorder	GBenign
Select item 1252980	NM_002224.4(ITPR3):c.627+16G>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264217	NM_002224.4(ITPR3):c.628-166G>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718415	NM_002224.4(ITPR3):c.628-5C>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2334297	NM_002224.4(ITPR3):c.682C>G (p.Arg228Gly)	ITPR3 (R228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3389409	NM_002224.4(ITPR3):c.699G>A (p.Glu233=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1232424	NM_002224.4(ITPR3):c.711+41A>G	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231526	NM_002224.4(ITPR3):c.712-176G>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3068221	NM_002224.4(ITPR3):c.730T>C (p.Phe244Leu)	ITPR3 (F244L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, type 1J	GUncertain significance
Select item 2364961	NM_002224.4(ITPR3):c.767A>G (p.Glu256Gly)	ITPR3 (E256G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271335	NM_002224.4(ITPR3):c.839A>G (p.Asn280Ser)	ITPR3 (N280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3376007	NM_002224.4(ITPR3):c.847T>C (p.Trp283Arg)	ITPR3 (W283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237130	NM_002224.4(ITPR3):c.858+21G>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293546	NM_002224.4(ITPR3):c.859-64C>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293547	NM_002224.4(ITPR3):c.954+33G>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232757	NM_002224.4(ITPR3):c.954+63A>G	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277008	NM_002224.4(ITPR3):c.955-120_955-115del	ITPR3	Deletion (intron variant)	not provided	GBenign
Select item 1181223	NM_002224.4(ITPR3):c.955-114T>C	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3530926	NM_002224.4(ITPR3):c.971A>C (p.Lys324Thr)	ITPR3 (K324T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570418	NM_002224.4(ITPR3):c.977A>G (p.Asp326Gly)	ITPR3 (D326G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111818	NM_002224.4(ITPR3):c.986A>T (p.Asp329Val)	ITPR3 (D329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111819	NM_002224.4(ITPR3):c.988C>T (p.Pro330Ser)	ITPR3 (P330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723915	NM_002224.4(ITPR3):c.1010C>T (p.Ala337Val)	ITPR3 (A337V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2522193	NM_002224.4(ITPR3):c.1027C>T (p.Arg343Cys)	ITPR3 (R343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3530923	NM_002224.4(ITPR3):c.1028G>A (p.Arg343His)	ITPR3 (R343H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726593	NM_002224.4(ITPR3):c.1110C>T (p.Asp370=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723833	NM_002224.4(ITPR3):c.1121T>G (p.Leu374Trp)	ITPR3 (L374W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2478407	NM_002224.4(ITPR3):c.1129A>C (p.Thr377Pro)	ITPR3 (T377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259069	NM_002224.4(ITPR3):c.1131C>T (p.Thr377=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1704834	NM_002224.4(ITPR3):c.1134C>G (p.Asp378Glu)	ITPR3 (D378E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249262	NM_002224.4(ITPR3):c.1136C>T (p.Ser379Phe)	ITPR3 (S379F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739556	NM_002224.4(ITPR3):c.1148+10C>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269800	NM_002224.4(ITPR3):c.1148+39G>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257160	NM_002224.4(ITPR3):c.1148+75G>C	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261266	NM_002224.4(ITPR3):c.1149-29C>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3530927	NM_002224.4(ITPR3):c.1154C>T (p.Ser385Leu)	ITPR3 (S385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557336	NM_002224.4(ITPR3):c.1229A>G (p.Glu410Gly)	ITPR3 (E410G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1293554	NM_002224.4(ITPR3):c.1248+4C>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053693	NM_002224.4(ITPR3):c.1254C>T (p.Gly418=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related disorder	GLikely benign
Select item 713893	NM_002224.4(ITPR3):c.1341C>T (p.Asp447=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3050443	NM_002224.4(ITPR3):c.1380C>T (p.Asn460=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related disorder	GLikely benign
Select item 3287016	NM_002224.4(ITPR3):c.1381G>A (p.Glu461Lys)	ITPR3 (E461K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430526	NM_002224.4(ITPR3):c.1381_1382insT (p.Glu461fs)	ITPR3 (E461fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2656494	NM_002224.4(ITPR3):c.1409+8_1409+23del	ITPR3	Deletion (intron variant)	not provided	GLikely benign
Select item 1293549	NM_002224.4(ITPR3):c.1410-85A>G	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3530935	NM_002224.4(ITPR3):c.1491G>A (p.Met497Ile)	ITPR3 (M497I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111783	NM_002224.4(ITPR3):c.1514G>A (p.Arg505Gln)	ITPR3 (R505Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656495	NM_002224.4(ITPR3):c.1551+4C>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791142	NM_002224.4(ITPR3):c.1551+5G>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261005	NM_002224.4(ITPR3):c.1551+187G>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2480373	NM_002224.4(ITPR3):c.1591G>T (p.Gly531Cys)	ITPR3 (G531C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287020	NM_002224.4(ITPR3):c.1600C>T (p.Pro534Ser)	ITPR3 (P534S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389320	NM_002224.4(ITPR3):c.1609C>T (p.Arg537Trp)	ITPR3 (R537W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111784	NM_002224.4(ITPR3):c.1610G>A (p.Arg537Gln)	ITPR3 (R537Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287017	NM_002224.4(ITPR3):c.1659C>A (p.Phe553Leu)	ITPR3 (F553L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731696	NM_002224.4(ITPR3):c.1713+7C>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296042	NM_002224.4(ITPR3):c.1713+50del	ITPR3	Deletion (intron variant)	not provided	GBenign
Select item 1262832	NM_002224.4(ITPR3):c.1714-162T>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3037733	NM_002224.4(ITPR3):c.1714-4C>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328365	NM_002224.4(ITPR3):c.1714-3C>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3387938	NM_002224.4(ITPR3):c.1740G>A (p.Met580Ile)	ITPR3 (M580I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3111785	NM_002224.4(ITPR3):c.1840G>A (p.Glu614Lys)	ITPR3 (E614K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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