ClinVar for Gene (Select 143570) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333585	NM_001378157.1(XRRA1):c.870C>A (p.Asp290Glu)	XRRA1 (D290E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333582	NM_001378157.1(XRRA1):c.1723A>G (p.Thr575Ala)	XRRA1 (T175A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333581	NM_001378157.1(XRRA1):c.2338G>A (p.Gly780Ser)	XRRA1 (G482S +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3333580	NM_001378157.1(XRRA1):c.301A>G (p.Lys101Glu)	XRRA1 (K101E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3333579	NM_001378157.1(XRRA1):c.431T>G (p.Phe144Cys)	XRRA1 (F136C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3333578	NM_001378157.1(XRRA1):c.2180G>A (p.Arg727Gln)	XRRA1 (G364S +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333577	NM_001378157.1(XRRA1):c.1575C>G (p.Cys525Trp)	XRRA1 (C140W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333576	NM_001378157.1(XRRA1):c.476G>T (p.Gly159Val)	XRRA1 (G151V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3333575	NM_001378157.1(XRRA1):c.2269C>T (p.Arg757Cys)	XRRA1 (R357C +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3191350	NM_001378157.1(XRRA1):c.973C>A (p.Leu325Met)	XRRA1 (L325M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191349	NM_001378157.1(XRRA1):c.686A>G (p.Lys229Arg)	XRRA1 (K229R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191348	NM_001378157.1(XRRA1):c.2281G>A (p.Gly761Arg)	XRRA1 (G408R +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3191347	NM_001378157.1(XRRA1):c.2155G>A (p.Val719Ile)	XRRA1 (V391I +9 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3191346	NM_001378157.1(XRRA1):c.2049G>C (p.Gln683His)	LOC126861265, XRRA1 (Q355H +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191344	NM_001378157.1(XRRA1):c.1705A>C (p.Thr569Pro)	XRRA1 (T184P +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191343	NM_001378157.1(XRRA1):c.1700A>G (p.Lys567Arg)	XRRA1 (K239R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191342	NM_001378157.1(XRRA1):c.1634C>T (p.Thr545Ile)	XRRA1 (T160I +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191341	NM_001378157.1(XRRA1):c.1594C>A (p.Pro532Thr)	XRRA1 (P437T +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191340	NM_001378157.1(XRRA1):c.1576C>T (p.Arg526Trp)	XRRA1 (R228W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191339	NM_001378157.1(XRRA1):c.1555G>C (p.Glu519Gln)	XRRA1 (E119Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191338	NM_001378157.1(XRRA1):c.146A>G (p.Lys49Arg)	XRRA1 (K49R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3191337	NM_001378157.1(XRRA1):c.1317A>C (p.Leu439Phe)	XRRA1 (L344F +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191335	NM_001378157.1(XRRA1):c.1053G>C (p.Lys351Asn)	XRRA1 (K343N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642153	NM_001378157.1(XRRA1):c.2118G>T (p.Arg706=)	LOC126861265, XRRA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2642152	NM_001378157.1(XRRA1):c.2274A>G (p.Thr758=)	XRRA1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2624198	NM_001378157.1(XRRA1):c.2232C>G (p.Phe744Leu)	XRRA1 (F359L +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2619967	NM_001378157.1(XRRA1):c.530A>G (p.Asp177Gly)	XRRA1 (D169G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2606278	NM_001378157.1(XRRA1):c.2227G>A (p.Glu743Lys)	XRRA1 (E390K +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2569699	NM_001378157.1(XRRA1):c.2150G>A (p.Gly717Asp)	XRRA1 (G317D +15 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2545383	NM_001378157.1(XRRA1):c.2307C>G (p.Cys769Trp)	XRRA1 (C471W +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2542823	NM_001378157.1(XRRA1):c.2287A>G (p.Thr763Ala)	XRRA1 (T435A +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2528803	NM_001378157.1(XRRA1):c.2111G>A (p.Arg704His)	LOC126861265, XRRA1 (R304H +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522835	NM_001378157.1(XRRA1):c.1331T>C (p.Ile444Thr)	XRRA1 (I146T +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2517152	NM_001378157.1(XRRA1):c.997C>T (p.Arg333Trp)	XRRA1 (R325W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509692	NM_001378157.1(XRRA1):c.226C>T (p.Arg76Trp)	XRRA1 (R76W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2507559	NM_001378157.1(XRRA1):c.1504C>A (p.Pro502Thr)	XRRA1 (P117T +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484609	NM_001378157.1(XRRA1):c.2362G>A (p.Glu788Lys)	XRRA1 (E505K +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2480040	NM_001378157.1(XRRA1):c.1337A>G (p.Lys446Arg)	XRRA1 (K118R +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468228	NM_001378157.1(XRRA1):c.1174G>A (p.Ala392Thr)	XRRA1 (A384T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2466685	NM_001378157.1(XRRA1):c.689G>C (p.Arg230Thr)	XRRA1 (R222T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464738	NM_001378157.1(XRRA1):c.1679G>A (p.Arg560His)	XRRA1 (R175H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2460999	NM_001378157.1(XRRA1):c.1240A>C (p.Asn414His)	XRRA1 (N29H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2411834	NM_001378157.1(XRRA1):c.545G>A (p.Ser182Asn)	XRRA1 (S182N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2409100	NM_001378157.1(XRRA1):c.767G>A (p.Ser256Asn)	XRRA1 (S256N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385850	NM_001378157.1(XRRA1):c.2126G>T (p.Arg709Leu)	LOC126861265, XRRA1 (R324L +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371391	NM_001378157.1(XRRA1):c.2246G>A (p.Arg749Gln)	XRRA1 (R364Q +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371081	NM_001378157.1(XRRA1):c.1559G>A (p.Gly520Asp)	XRRA1 (G167D +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369307	NM_001378157.1(XRRA1):c.1733G>C (p.Ser578Thr)	XRRA1 (S280T +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369169	NM_001378157.1(XRRA1):c.1085T>A (p.Leu362His)	XRRA1 (L362H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363773	NM_001378157.1(XRRA1):c.227G>T (p.Arg76Leu)	XRRA1 (R76L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361760	NM_001378157.1(XRRA1):c.1357A>C (p.Met453Leu)	XRRA1 (M125L +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333614	NM_001378157.1(XRRA1):c.752C>T (p.Pro251Leu)	XRRA1 (P243L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329982	NM_001378157.1(XRRA1):c.466G>A (p.Ala156Thr)	XRRA1 (A156T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2318793	NM_001378157.1(XRRA1):c.880G>A (p.Gly294Ser)	XRRA1 (G294S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317331	NM_001378157.1(XRRA1):c.1663C>T (p.Arg555Cys)	XRRA1 (R155C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317167	NM_001378157.1(XRRA1):c.1967A>G (p.Lys656Arg)	LOC126861265, XRRA1 (K641R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311444	NM_001378157.1(XRRA1):c.638A>G (p.Asn213Ser)	XRRA1 (N205S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2306398	NM_001378157.1(XRRA1):c.1064T>G (p.Leu355Arg)	XRRA1 (L347R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297833	NM_001378157.1(XRRA1):c.2109T>G (p.Ile703Met)	LOC126861265, XRRA1 (I350M +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295712	NM_001378157.1(XRRA1):c.2115G>T (p.Leu705Phe)	LOC126861265, XRRA1 (L320F +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279151	NM_001378157.1(XRRA1):c.104A>G (p.His35Arg)	XRRA1 (H35R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2261524	NM_001378157.1(XRRA1):c.2057C>G (p.Pro686Arg)	LOC126861265, XRRA1 (P403R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259661	NM_001378157.1(XRRA1):c.1751T>C (p.Val584Ala)	XRRA1 (V489A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244415	NM_001378157.1(XRRA1):c.2245C>T (p.Arg749Trp)	XRRA1 (R349W +9 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2243439	NM_001378157.1(XRRA1):c.2024A>G (p.Tyr675Cys)	LOC126861265, XRRA1 (Y322C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242750	NM_001378157.1(XRRA1):c.1375T>C (p.Trp459Arg)	XRRA1 (W161R +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2220641	NM_001378157.1(XRRA1):c.172C>T (p.Arg58Cys)	XRRA1 (R58C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217613	NM_001378157.1(XRRA1):c.413T>G (p.Leu138Arg)	XRRA1 (L138R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 155201	GRCh38/hg38 11q13.4(chr11:74648822-74907890)x1	CHRDL2, LOC108281147 +7 more	Copy number loss	See cases	GUncertain significance
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 78