ITPRID2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 58811	GRCh38/hg38 2q31.3-32.1(chr2:181491072-182559009)x1	CERKL, ITGA4 +20 more	Copy number loss	See cases	GPathogenic
Select item 438234	Single allele	CERKL, ITGA4 +13 more	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 3111924	NM_001130445.3(ITPRID2):c.58G>A (p.Ala20Thr)	ITPRID2 (A20T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623002	NM_001130445.3(ITPRID2):c.62G>T (p.Ser21Ile)	ITPRID2 (S21I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590313	NM_001130445.3(ITPRID2):c.65G>A (p.Arg22His)	ITPRID2 (R22H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111877	NM_001130445.3(ITPRID2):c.163G>A (p.Glu55Lys)	ITPRID2, LOC129935218 (E55K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111886	NM_001130445.3(ITPRID2):c.196G>A (p.Ala66Thr)	ITPRID2, LOC129935218 (A66T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111887	NM_001130445.3(ITPRID2):c.205G>A (p.Gly69Arg)	ITPRID2, LOC129935218 (G69R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111918	NM_001130445.3(ITPRID2):c.368A>G (p.Asn123Ser)	ITPRID2 (N123S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111920	NM_001130445.3(ITPRID2):c.527A>G (p.Tyr176Cys)	ITPRID2 (Y176C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111921	NM_001130445.3(ITPRID2):c.571C>T (p.Arg191Cys)	ITPRID2 (R191C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111922	NM_001130445.3(ITPRID2):c.572G>A (p.Arg191His)	ITPRID2 (R191H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111923	NM_001130445.3(ITPRID2):c.587T>C (p.Ile196Thr)	ITPRID2 (I43T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607661	NM_001130445.3(ITPRID2):c.733G>C (p.Val245Leu)	ITPRID2 (V245L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513965	NM_001130445.3(ITPRID2):c.784G>A (p.Gly262Arg)	ITPRID2 (G109R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546188	NM_001130445.3(ITPRID2):c.806G>A (p.Gly269Glu)	ITPRID2 (G116E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111926	NM_001130445.3(ITPRID2):c.811A>G (p.Met271Val)	ITPRID2 (M118V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623496	NM_001130445.3(ITPRID2):c.814T>A (p.Ser272Thr)	ITPRID2 (S272T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111927	NM_001130445.3(ITPRID2):c.869A>G (p.Asn290Ser)	ITPRID2 (N290S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111928	NM_001130445.3(ITPRID2):c.955C>T (p.Pro319Ser)	ITPRID2 (P166S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111929	NM_001130445.3(ITPRID2):c.970G>A (p.Gly324Arg)	ITPRID2 (G171R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111930	NM_001130445.3(ITPRID2):c.988T>C (p.Ser330Pro)	ITPRID2 (S177P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623826	NM_001130445.3(ITPRID2):c.1036A>T (p.Ile346Phe)	ITPRID2 (I193F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111864	NM_001130445.3(ITPRID2):c.1047G>T (p.Lys349Asn)	ITPRID2 (K196N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569770	NM_001130445.3(ITPRID2):c.1112C>T (p.Thr371Met)	ITPRID2 (T218M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3111866	NM_001130445.3(ITPRID2):c.1151A>G (p.Asn384Ser)	ITPRID2 (N231S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111867	NM_001130445.3(ITPRID2):c.1220G>A (p.Gly407Asp)	ITPRID2 (G407D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111868	NM_001130445.3(ITPRID2):c.1232G>T (p.Gly411Val)	ITPRID2 (G411V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492406	NM_001130445.3(ITPRID2):c.1325C>A (p.Thr442Lys)	ITPRID2 (T442K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111869	NM_001130445.3(ITPRID2):c.1346C>A (p.Ala449Glu)	ITPRID2 (A449E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111870	NM_001130445.3(ITPRID2):c.1348C>T (p.Pro450Ser)	ITPRID2 (P450S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111871	NM_001130445.3(ITPRID2):c.1361C>T (p.Pro454Leu)	ITPRID2 (P454L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111872	NM_001130445.3(ITPRID2):c.1378A>G (p.Met460Val)	ITPRID2 (M460V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111873	NM_001130445.3(ITPRID2):c.1430G>A (p.Gly477Glu)	ITPRID2 (G324E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111874	NM_001130445.3(ITPRID2):c.1556T>C (p.Leu519Pro)	ITPRID2 (L519P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111876	NM_001130445.3(ITPRID2):c.1594G>T (p.Ala532Ser)	ITPRID2 (A532S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111878	NM_001130445.3(ITPRID2):c.1640C>T (p.Thr547Met)	ITPRID2 (T547M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111879	NM_001130445.3(ITPRID2):c.1660G>A (p.Ala554Thr)	ITPRID2 (A401T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111880	NM_001130445.3(ITPRID2):c.1687T>C (p.Tyr563His)	ITPRID2 (Y410H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111881	NM_001130445.3(ITPRID2):c.1697A>G (p.Glu566Gly)	ITPRID2 (E413G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111882	NM_001130445.3(ITPRID2):c.1732G>A (p.Gly578Arg)	ITPRID2 (G578R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614178	NM_001130445.3(ITPRID2):c.1825C>G (p.Gln609Glu)	ITPRID2 (Q609E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111883	NM_001130445.3(ITPRID2):c.1901T>C (p.Val634Ala)	ITPRID2 (V634A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111884	NM_001130445.3(ITPRID2):c.1925C>T (p.Ala642Val)	ITPRID2 (A642V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499647	GRCh38/hg38 2q31.3-32.1(chr2:181915576-182470985)	ITPRID2, LOC126806441 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2464957	NM_001130445.3(ITPRID2):c.1937T>C (p.Val646Ala)	ITPRID2 (V493A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111885	NM_001130445.3(ITPRID2):c.1956T>G (p.Ser652Arg)	ITPRID2 (S499R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111888	NM_001130445.3(ITPRID2):c.2071G>A (p.Val691Ile)	ITPRID2 (V691I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553449	NM_001130445.3(ITPRID2):c.2117C>T (p.Ser706Phe)	ITPRID2 (S553F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111889	NM_001130445.3(ITPRID2):c.2135G>A (p.Arg712His)	ITPRID2 (R559H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111890	NM_001130445.3(ITPRID2):c.2216C>G (p.Ser739Cys)	ITPRID2 (S586C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548819	NM_001130445.3(ITPRID2):c.2224A>G (p.Thr742Ala)	ITPRID2 (T742A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111891	NM_001130445.3(ITPRID2):c.2228C>G (p.Thr743Ser)	ITPRID2 (T590S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111892	NM_001130445.3(ITPRID2):c.2264A>G (p.Asn755Ser)	ITPRID2 (N602S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617415	NM_001130445.3(ITPRID2):c.2306C>A (p.Pro769His)	ITPRID2 (P769H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599259	NM_001130445.3(ITPRID2):c.2372A>G (p.Asp791Gly)	ITPRID2 (D638G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111893	NM_001130445.3(ITPRID2):c.2429A>G (p.Glu810Gly)	ITPRID2 (E657G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111894	NM_001130445.3(ITPRID2):c.2434G>A (p.Ala812Thr)	ITPRID2 (A659T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111895	NM_001130445.3(ITPRID2):c.2442G>C (p.Gln814His)	ITPRID2 (Q814H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568989	NM_001130445.3(ITPRID2):c.2492G>C (p.Cys831Ser)	ITPRID2 (C831S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111896	NM_001130445.3(ITPRID2):c.2515A>G (p.Met839Val)	ITPRID2 (M686V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111897	NM_001130445.3(ITPRID2):c.2528C>T (p.Thr843Ile)	ITPRID2 (T843I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111898	NM_001130445.3(ITPRID2):c.2545A>G (p.Ile849Val)	ITPRID2 (I849V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512902	NM_001130445.3(ITPRID2):c.2615A>G (p.Asn872Ser)	ITPRID2 (N719S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111899	NM_001130445.3(ITPRID2):c.2666A>G (p.Tyr889Cys)	ITPRID2 (Y736C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111900	NM_001130445.3(ITPRID2):c.2878G>A (p.Glu960Lys)	ITPRID2 (E960K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111901	NM_001130445.3(ITPRID2):c.2950C>T (p.Arg984Cys)	ITPRID2 (R984C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111902	NM_001130445.3(ITPRID2):c.2962A>G (p.Met988Val)	ITPRID2 (M835V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515770	NM_001130445.3(ITPRID2):c.3073C>T (p.Arg1025Cys)	ITPRID2 (R1025C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111903	NM_001130445.3(ITPRID2):c.3082G>A (p.Gly1028Ser)	ITPRID2 (G1028S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111904	NM_001130445.3(ITPRID2):c.3109C>T (p.Arg1037Cys)	ITPRID2 (R1037C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111905	NM_001130445.3(ITPRID2):c.3142A>G (p.Met1048Val)	ITPRID2 (M1048V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3111906	NM_001130445.3(ITPRID2):c.3208C>G (p.Pro1070Ala)	ITPRID2 (P1070A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111907	NM_001130445.3(ITPRID2):c.3319T>A (p.Ser1107Thr)	ITPRID2 (S1107T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111908	NM_001130445.3(ITPRID2):c.3367G>A (p.Ala1123Thr)	ITPRID2 (A1101T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111909	NM_001130445.3(ITPRID2):c.3397G>A (p.Ala1133Thr)	ITPRID2 (A1111T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491395	NM_001130445.3(ITPRID2):c.3397G>C (p.Ala1133Pro)	ITPRID2 (A1111P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111910	NM_001130445.3(ITPRID2):c.3422C>A (p.Pro1141Gln)	ITPRID2 (P966Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111911	NM_001130445.3(ITPRID2):c.3438G>T (p.Lys1146Asn)	ITPRID2 (K1124N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111912	NM_001130445.3(ITPRID2):c.3479C>G (p.Pro1160Arg)	ITPRID2 (P1138R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111913	NM_001130445.3(ITPRID2):c.3502A>T (p.Thr1168Ser)	ITPRID2 (T993S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111914	NM_001130445.3(ITPRID2):c.3527A>T (p.Glu1176Val)	ITPRID2 (E1001V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111915	NM_001130445.3(ITPRID2):c.3533T>C (p.Val1178Ala)	ITPRID2 (V1003A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2544682	NM_001130445.3(ITPRID2):c.3558A>T (p.Glu1186Asp)	ITPRID2 (E1011D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111917	NM_001130445.3(ITPRID2):c.3670C>T (p.Arg1224Trp)	ITPRID2 (R1202W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589711	NM_001130445.3(ITPRID2):c.3706C>T (p.Arg1236Trp)	ITPRID2 (R1214W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3111919	NM_001130445.3(ITPRID2):c.3755C>T (p.Ser1252Phe)	ITPRID2 (S1077F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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