XIRP2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 433

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
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 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 57142	GRCh38/hg38 2q24.3(chr2:166286955-167102242)x1	SCN1A-AS1, SCN7A +2 more	Copy number loss	See cases	GUncertain significance
Select item 3039992	NM_152381.6(XIRP2):c.2T>C (p.Met1Thr)	XIRP2 (M1T)	Single nucleotide variant (missense variant +1 more)	XIRP2-related disorder	GLikely benign
Select item 791155	NM_152381.6(XIRP2):c.10A>G (p.Met4Val)	XIRP2 (M4V)	Single nucleotide variant (missense variant)	XIRP2-related disorder +1 more	GBenign
Select item 2651512	NM_152381.6(XIRP2):c.21C>T (p.Gly7=)	XIRP2	Single nucleotide variant (synonymous variant)	XIRP2-related disorder +1 more	GLikely benign
Select item 720291	NM_152381.6(XIRP2):c.39G>A (p.Arg13=)	XIRP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2496137	NM_152381.6(XIRP2):c.71G>T (p.Ser24Ile)	XIRP2 (S24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756167	NM_152381.6(XIRP2):c.216T>C (p.Ser72=)	XIRP2	Single nucleotide variant (synonymous variant)	XIRP2-related disorder +1 more	GLikely benign
Select item 2538234	NM_152381.6(XIRP2):c.247A>G (p.Lys83Glu)	XIRP2 (K83E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550773	NM_152381.6(XIRP2):c.257A>C (p.Asn86Thr)	XIRP2 (N86T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539349	NM_152381.6(XIRP2):c.274C>T (p.Arg92Trp)	XIRP2 (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371883	NM_152381.6(XIRP2):c.282A>T (p.Glu94Asp)	XIRP2 (E94D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298527	NM_152381.6(XIRP2):c.307A>T (p.Ser103Cys)	XIRP2 (S103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333410	NM_152381.6(XIRP2):c.314G>A (p.Arg105His)	XIRP2 (R105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526886	NM_152381.6(XIRP2):c.318G>T (p.Arg106Ser)	XIRP2 (R106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226623	NM_152381.6(XIRP2):c.378T>G (p.Ser126Arg)	XIRP2 (S126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610042	NM_152381.6(XIRP2):c.389C>T (p.Pro130Leu)	XIRP2 (P130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153905	GRCh38/hg38 2q24.3(chr2:166965777-167438096)x1	B3GALT1, LOC122847309 +4 more	Copy number loss	See cases	GLikely benign
Select item 2310287	NM_152381.6(XIRP2):c.428G>A (p.Ser143Asn)	XIRP2, XIRP2-AS1 (S143N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049522	NM_152381.6(XIRP2):c.461G>A (p.Gly154Glu)	XIRP2, XIRP2-AS1 (G154E)	Single nucleotide variant (missense variant)	XIRP2-related disorder	GLikely benign
Select item 2245528	NM_152381.6(XIRP2):c.464G>T (p.Ser155Ile)	XIRP2, XIRP2-AS1 (S155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403612	NM_152381.6(XIRP2):c.472G>A (p.Glu158Lys)	XIRP2, XIRP2-AS1 (E158K)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2290780	NM_152381.6(XIRP2):c.519T>G (p.Phe173Leu)	XIRP2, XIRP2-AS1 (F173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333385	NM_152381.6(XIRP2):c.551G>A (p.Arg184His)	XIRP2, XIRP2-AS1 (R184H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3029807	NM_152381.6(XIRP2):c.563-26164C>T	XIRP2 (L198F)	Single nucleotide variant (missense variant +1 more)	XIRP2-related disorder	GUncertain significance
Select item 789967	NM_152381.6(XIRP2):c.563-26158C>T	XIRP2 (L200F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 711348	NM_152381.6(XIRP2):c.563-26147T>C	XIRP2	Single nucleotide variant (synonymous variant +1 more)	XIRP2-related disorder +1 more	GBenign/Likely benign
Select item 3056174	NM_152381.6(XIRP2):c.563-26093T>C	XIRP2	Single nucleotide variant (splice donor variant +1 more)	XIRP2-related disorder	GBenign
Select item 762290	NM_152381.6(XIRP2):c.642C>T (p.His214=)	XIRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3333393	NM_152381.6(XIRP2):c.664C>T (p.Arg222Trp)	XIRP2 (R255W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547280	NM_152381.6(XIRP2):c.669G>A (p.Met223Ile)	XIRP2 (M223I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615938	NM_152381.6(XIRP2):c.704G>C (p.Cys235Ser)	XIRP2 (C13S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753685	NM_152381.6(XIRP2):c.747C>T (p.Cys249=)	XIRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724596	NM_152381.6(XIRP2):c.753G>T (p.Val251=)	XIRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 724597	NM_152381.6(XIRP2):c.754C>T (p.Pro252Ser)	XIRP2 (P285S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 729114	NM_152381.6(XIRP2):c.793G>A (p.Glu265Lys)	XIRP2 (E265K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3191093	NM_152381.6(XIRP2):c.802T>A (p.Ser268Thr)	XIRP2 (S268T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515915	NM_152381.6(XIRP2):c.815C>T (p.Thr272Ile)	XIRP2 (T50I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722353	NM_152381.6(XIRP2):c.869A>G (p.His290Arg)	XIRP2 (H290R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 780359	NM_152381.6(XIRP2):c.902A>T (p.Gln301Leu)	XIRP2 (Q301L +2 more)	Single nucleotide variant (missense variant)	XIRP2-related disorder +1 more	GBenign
Select item 2318120	NM_152381.6(XIRP2):c.928G>A (p.Gly310Arg)	XIRP2 (G343R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209091	NM_152381.6(XIRP2):c.948T>G (p.Ile316Met)	XIRP2 (I316M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739641	NM_152381.6(XIRP2):c.975T>C (p.Ser325=)	XIRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047590	NM_152381.6(XIRP2):c.997G>C (p.Glu333Gln)	XIRP2 (E111Q +2 more)	Single nucleotide variant (missense variant)	XIRP2-related disorder	GLikely benign
Select item 3191043	NM_152381.6(XIRP2):c.1010C>A (p.Ala337Glu)	XIRP2 (A370E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729115	NM_152381.6(XIRP2):c.1011A>C (p.Ala337=)	XIRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3055233	NM_152381.6(XIRP2):c.1026A>G (p.Gln342=)	XIRP2	Single nucleotide variant (synonymous variant)	XIRP2-related disorder	GLikely benign
Select item 2278269	NM_152381.6(XIRP2):c.1048G>A (p.Asp350Asn)	XIRP2 (D383N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715949	NM_152381.6(XIRP2):c.1052C>T (p.Thr351Ile)	XIRP2 (T351I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2231465	NM_152381.6(XIRP2):c.1075A>C (p.Lys359Gln)	XIRP2 (K137Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053544	NM_152381.6(XIRP2):c.1083G>A (p.Ser361=)	XIRP2	Single nucleotide variant (synonymous variant)	XIRP2-related disorder	GLikely benign
Select item 741948	NM_152381.6(XIRP2):c.1150A>T (p.Met384Leu)	XIRP2 (M162L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2273699	NM_152381.6(XIRP2):c.1151T>C (p.Met384Thr)	XIRP2 (M162T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 750606	NM_152381.6(XIRP2):c.1203C>T (p.Phe401=)	XIRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604701	NM_152381.6(XIRP2):c.1382A>C (p.Gln461Pro)	XIRP2 (Q461P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270949	NM_152381.6(XIRP2):c.1393G>A (p.Asp465Asn)	XIRP2 (D243N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790440	NM_152381.6(XIRP2):c.1414T>C (p.Ser472Pro)	XIRP2 (S472P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2242276	NM_152381.6(XIRP2):c.1445T>C (p.Leu482Pro)	XIRP2 (L260P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 749323	NM_152381.6(XIRP2):c.1476A>C (p.Gln492His)	XIRP2 (Q270H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3191048	NM_152381.6(XIRP2):c.1483T>G (p.Leu495Val)	XIRP2 (L495V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241628	NM_152381.6(XIRP2):c.1498C>T (p.Arg500Cys)	XIRP2 (R500C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783987	NM_152381.6(XIRP2):c.1598G>A (p.Ser533Asn)	XIRP2 (S533N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3191049	NM_152381.6(XIRP2):c.1625C>A (p.Ala542Asp)	XIRP2 (A320D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721736	NM_152381.6(XIRP2):c.1655G>C (p.Ser552Thr)	XIRP2 (S330T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2465592	NM_152381.6(XIRP2):c.1664A>G (p.Lys555Arg)	XIRP2 (K555R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191050	NM_152381.6(XIRP2):c.1730T>C (p.Ile577Thr)	XIRP2 (I355T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269393	NM_152381.6(XIRP2):c.1734A>T (p.Arg578Ser)	XIRP2 (R356S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364542	NM_152381.6(XIRP2):c.1769A>G (p.Asn590Ser)	XIRP2 (N590S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241607	NM_152381.6(XIRP2):c.1774G>C (p.Gly592Arg)	XIRP2 (G592R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053584	NM_152381.6(XIRP2):c.1822A>G (p.Ile608Val)	XIRP2 (I386V +1 more)	Single nucleotide variant (missense variant +1 more)	XIRP2-related disorder	GBenign
Select item 3191051	NM_152381.6(XIRP2):c.1835G>A (p.Gly612Asp)	XIRP2 (G390D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058991	NM_152381.6(XIRP2):c.1836T>C (p.Gly612=)	XIRP2	Single nucleotide variant (synonymous variant +1 more)	XIRP2-related disorder	GBenign
Select item 3056252	NM_152381.6(XIRP2):c.1873C>G (p.Pro625Ala)	XIRP2 (P403A +1 more)	Single nucleotide variant (missense variant +1 more)	XIRP2-related disorder	GBenign
Select item 3051006	NM_152381.6(XIRP2):c.1875C>G (p.Pro625=)	XIRP2	Single nucleotide variant (synonymous variant +1 more)	XIRP2-related disorder	GLikely benign
Select item 2596000	NM_152381.6(XIRP2):c.1879G>A (p.Asp627Asn)	XIRP2 (D405N +1 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3191052	NM_152381.6(XIRP2):c.1885C>G (p.Leu629Val)	XIRP2 (L407V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059268	NM_152381.6(XIRP2):c.1894T>C (p.Tyr632His)	XIRP2 (Y410H +1 more)	Single nucleotide variant (missense variant +1 more)	XIRP2-related disorder	GBenign
Select item 3191053	NM_152381.6(XIRP2):c.1907C>A (p.Thr636Asn)	XIRP2 (T414N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191054	NM_152381.6(XIRP2):c.1931C>A (p.Pro644His)	XIRP2 (P422H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191055	NM_152381.6(XIRP2):c.1998G>T (p.Met666Ile)	XIRP2 (M666I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 795162	NM_152381.6(XIRP2):c.2007G>A (p.Met669Ile)	XIRP2 (M447I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 710895	NM_152381.6(XIRP2):c.2049C>T (p.Asp683=)	XIRP2	Single nucleotide variant (synonymous variant +1 more)	XIRP2-related disorder +1 more	GBenign/Likely benign
Select item 3333388	NM_152381.6(XIRP2):c.2056G>T (p.Gly686Trp)	XIRP2 (G464W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479117	NM_152381.6(XIRP2):c.2068A>C (p.Lys690Gln)	XIRP2 (K468Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191056	NM_152381.6(XIRP2):c.2069A>G (p.Lys690Arg)	XIRP2 (K468R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531063	NM_152381.6(XIRP2):c.2092A>G (p.Thr698Ala)	XIRP2 (T476A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462241	NM_152381.6(XIRP2):c.2118G>T (p.Gln706His)	XIRP2 (Q484H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 753353	NM_152381.6(XIRP2):c.2155A>G (p.Arg719Gly)	XIRP2 (R497G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 729116	NM_152381.6(XIRP2):c.2208C>T (p.Phe736=)	XIRP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3058496	NM_152381.6(XIRP2):c.2223A>G (p.Leu741=)	XIRP2	Single nucleotide variant (synonymous variant +1 more)	XIRP2-related disorder	GLikely benign
Select item 3333386	NM_152381.6(XIRP2):c.2225A>G (p.Tyr742Cys)	XIRP2 (Y742C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333387	NM_152381.6(XIRP2):c.2236G>C (p.Asp746His)	XIRP2 (D524H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721992	NM_152381.6(XIRP2):c.2311C>T (p.Arg771Trp)	XIRP2 (R549W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign

<< First< Prev

Page of 5