ClinVar for Gene (Select 3710) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3111818	NM_002224.4(ITPR3):c.986A>T (p.Asp329Val)	ITPR3 (D329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111817	NM_002224.4(ITPR3):c.7961G>A (p.Arg2654Gln)	ITPR3 (R2654Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111816	NM_002224.4(ITPR3):c.7817G>A (p.Arg2606Gln)	ITPR3, LOC126859658 (R2606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111815	NM_002224.4(ITPR3):c.7816C>G (p.Arg2606Gly)	ITPR3, LOC126859658 (R2606G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111813	NM_002224.4(ITPR3):c.7666G>A (p.Glu2556Lys)	ITPR3 (E2556K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111812	NM_002224.4(ITPR3):c.7283A>T (p.Asp2428Val)	ITPR3 (D2428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111811	NM_002224.4(ITPR3):c.7156G>A (p.Val2386Ile)	ITPR3 (V2386I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111810	NM_002224.4(ITPR3):c.6926G>C (p.Arg2309Pro)	ITPR3 (R2309P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111809	NM_002224.4(ITPR3):c.6910C>T (p.Arg2304Cys)	ITPR3 (R2304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111808	NM_002224.4(ITPR3):c.6773G>A (p.Arg2258His)	ITPR3 (R2258H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111807	NM_002224.4(ITPR3):c.6247G>A (p.Glu2083Lys)	ITPR3 (E2083K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111806	NM_002224.4(ITPR3):c.6242A>C (p.Glu2081Ala)	ITPR3 (E2081A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111804	NM_002224.4(ITPR3):c.6082G>C (p.Val2028Leu)	ITPR3 (V2028L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111803	NM_002224.4(ITPR3):c.5900T>C (p.Ile1967Thr)	ITPR3 (I1967T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111802	NM_002224.4(ITPR3):c.5828C>G (p.Thr1943Ser)	ITPR3 (T1943S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111801	NM_002224.4(ITPR3):c.5554C>T (p.His1852Tyr)	ITPR3 (H1852Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111800	NM_002224.4(ITPR3):c.5498T>C (p.Phe1833Ser)	ITPR3 (F1833S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111799	NM_002224.4(ITPR3):c.5494T>G (p.Ser1832Ala)	ITPR3 (S1832A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111798	NM_002224.4(ITPR3):c.5180G>A (p.Arg1727Gln)	ITPR3 (R1727Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111796	NM_002224.4(ITPR3):c.3489G>C (p.Glu1163Asp)	ITPR3 (E1163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111795	NM_002224.4(ITPR3):c.3206C>T (p.Pro1069Leu)	ITPR3 (P1069L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111794	NM_002224.4(ITPR3):c.3172G>A (p.Val1058Met)	ITPR3 (V1058M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111793	NM_002224.4(ITPR3):c.3076G>C (p.Asp1026His)	ITPR3 (D1026H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111792	NM_002224.4(ITPR3):c.3035C>T (p.Thr1012Ile)	ITPR3 (T1012I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111791	NM_002224.4(ITPR3):c.3022G>T (p.Gly1008Trp)	ITPR3 (G1008W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111790	NM_002224.4(ITPR3):c.2905C>A (p.Leu969Met)	ITPR3 (L969M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111789	NM_002224.4(ITPR3):c.2803G>A (p.Val935Ile)	ITPR3 (V935I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111788	NM_002224.4(ITPR3):c.2714A>G (p.Tyr905Cys)	ITPR3 (Y905C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111787	NM_002224.4(ITPR3):c.2248G>A (p.Glu750Lys)	ITPR3 (E750K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111786	NM_002224.4(ITPR3):c.1876C>T (p.Arg626Trp)	ITPR3 (R626W)	Single nucleotide variant (missense variant)	not specified	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
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 3111783	NM_002224.4(ITPR3):c.1514G>A (p.Arg505Gln)	ITPR3 (R505Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3060552	NM_002224.4(ITPR3):c.5511C>T (p.Gly1837=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GBenign
Select item 3060407	NM_002224.4(ITPR3):c.2163C>T (p.His721=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GBenign
Select item 3060324	NM_002224.4(ITPR3):c.3771+8T>C	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition	GBenign
Select item 3057541	NM_002224.4(ITPR3):c.5799C>T (p.Asn1933=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3056716	NM_002224.4(ITPR3):c.627+9G>T	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition	GBenign
Select item 3055958	NM_002224.4(ITPR3):c.7551C>T (p.Ile2517=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GBenign
Select item 3055735	NM_002224.4(ITPR3):c.198G>A (p.Ser66=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3054815	NM_002224.4(ITPR3):c.5434G>A (p.Gly1812Ser)	ITPR3 (G1812S)	Single nucleotide variant (missense variant)	ITPR3-related condition	GUncertain significance
Select item 3053693	NM_002224.4(ITPR3):c.1254C>T (p.Gly418=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3052996	NM_002224.4(ITPR3):c.5913C>T (p.Thr1971=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3052627	NM_002224.4(ITPR3):c.2226C>T (p.Asp742=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3051947	NM_002224.4(ITPR3):c.7311G>A (p.Ser2437=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3051686	NM_002224.4(ITPR3):c.4176G>A (p.Pro1392=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3050443	NM_002224.4(ITPR3):c.1380C>T (p.Asn460=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3049802	NM_002224.4(ITPR3):c.3282+6G>A	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition	GLikely benign
Select item 3049163	NM_002224.4(ITPR3):c.6837G>A (p.Gly2279=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3047253	NM_002224.4(ITPR3):c.5421C>T (p.Asn1807=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3047235	NM_002224.4(ITPR3):c.5307+3G>A	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition	GLikely benign
Select item 3046673	NM_002224.4(ITPR3):c.1974C>T (p.Asp658=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3046564	NM_002224.4(ITPR3):c.5556C>T (p.His1852=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3045060	NM_002224.4(ITPR3):c.3597C>T (p.Asn1199=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3044679	NM_002224.4(ITPR3):c.6375+9G>A	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition	GLikely benign
Select item 3041108	NM_002224.4(ITPR3):c.438C>T (p.Asn146=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3040710	NM_002224.4(ITPR3):c.159T>C (p.Arg53=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GLikely benign
Select item 3038284	NM_002224.4(ITPR3):c.4789-9C>T	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition	GBenign
Select item 3037888	NM_002224.4(ITPR3):c.5937C>T (p.Ser1979=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GBenign
Select item 3037733	NM_002224.4(ITPR3):c.1714-4C>A	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition	GBenign
Select item 3035475	NM_002224.4(ITPR3):c.7071C>T (p.Asn2357=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GBenign
Select item 3033821	NM_002224.4(ITPR3):c.5668-4G>A	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition	GLikely benign
Select item 3033109	NM_002224.4(ITPR3):c.7752G>A (p.Thr2584=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition	GBenign
Select item 3032221	NM_002224.4(ITPR3):c.4588G>C (p.Ala1530Pro)	ITPR3 (A1530P)	Single nucleotide variant (missense variant)	ITPR3-related condition	GUncertain significance
Select item 3026215	NM_002224.4(ITPR3):c.5560G>A (p.Val1854Met)	ITPR3 (V1854M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025804	NM_002224.4(ITPR3):c.7975C>T (p.Arg2659Cys)	ITPR3 (R2659C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753917	NM_002224.4(ITPR3):c.5411T>C (p.Val1804Ala)	ITPR3 (V1804A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718076	NM_002224.4(ITPR3):c.2291T>C (p.Met764Thr)	ITPR3 (M764T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689266	NM_002224.4(ITPR3):c.5138-8G>A	ITPR3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, demyelinating, type 1J	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 2656502	NM_002224.4(ITPR3):c.6576G>A (p.Pro2192=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656501	NM_002224.4(ITPR3):c.6126G>A (p.Ser2042=)	ITPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656500	NM_002224.4(ITPR3):c.5382G>A (p.Lys1794=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition +1 more	GBenign/Likely benign
Select item 2656499	NM_002224.4(ITPR3):c.5213G>A (p.Cys1738Tyr)	ITPR3 (C1738Y)	Single nucleotide variant (missense variant)	ITPR3-related condition +1 more	GLikely benign
Select item 2656498	NM_002224.4(ITPR3):c.3987T>C (p.Gly1329=)	ITPR3	Single nucleotide variant (synonymous variant)	ITPR3-related condition +1 more	GLikely benign
Select item 2656497	NM_002224.4(ITPR3):c.3391A>C (p.Lys1131Gln)	ITPR3 (K1131Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656496	NM_002224.4(ITPR3):c.1886+8C>T	ITPR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656495	NM_002224.4(ITPR3):c.1551+4C>T	ITPR3	Single nucleotide variant (intron variant)	ITPR3-related condition +1 more	GBenign
Select item 2656494	NM_002224.4(ITPR3):c.1409+8_1409+23del	ITPR3	Deletion (intron variant)	ITPR3-related condition +1 more	GLikely benign
Select item 2656493	NM_002224.4(ITPR3):c.534C>T (p.Val178=)	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)	ITPR3-related condition +1 more	GBenign/Likely benign
Select item 2621175	NM_002224.4(ITPR3):c.4432G>T (p.Ala1478Ser)	ITPR3 (A1478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614972	NM_002224.4(ITPR3):c.8011C>T (p.Arg2671Cys)	ITPR3 (R2671C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610482	NM_002224.4(ITPR3):c.2612T>C (p.Ile871Thr)	ITPR3 (I871T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600124	NM_002224.4(ITPR3):c.4625T>C (p.Met1542Thr)	ITPR3 (M1542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599248	NM_002224.4(ITPR3):c.1883C>T (p.Pro628Leu)	ITPR3 (P628L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598684	NM_002224.4(ITPR3):c.4204C>T (p.His1402Tyr)	ITPR3 (H1402Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592372	NM_002224.4(ITPR3):c.3427G>A (p.Ala1143Thr)	ITPR3 (A1143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591404	NM_002224.4(ITPR3):c.7201C>T (p.Arg2401Trp)	ITPR3 (R2401W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590838	NM_002224.4(ITPR3):c.7387G>A (p.Val2463Ile)	ITPR3 (V2463I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580899	NM_002224.4(ITPR3):c.2749A>C (p.Ile917Leu)	ITPR3 (I917L)	Single nucleotide variant (missense variant)	not provided	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 2578999	NM_002224.4(ITPR3):c.7802G>A (p.Trp2601Ter)	ITPR3, LOC126859658 (W2601*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2578323	NM_002224.4(ITPR3):c.7147T>C (p.Phe2383Leu)	ITPR3 (F2383L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578246	NM_002224.4(ITPR3):c.445C>T (p.Arg149Trp)	ITPR3 (R149W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575780	NM_002224.4(ITPR3):c.3674T>G (p.Leu1225Arg)	ITPR3 (L1225R)	Single nucleotide variant (missense variant)	not provided	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

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