ClinVar for Gene (Select 92552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333236	NM_001135995.2(ATXN3L):c.550G>A (p.Glu184Lys)	ATXN3L, GS1-600G8.3 (E96K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3333227	NM_001135995.2(ATXN3L):c.458C>T (p.Ala153Val)	ATXN3L, GS1-600G8.3 (A153V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3333219	NM_001135995.2(ATXN3L):c.506T>C (p.Leu169Pro)	ATXN3L, GS1-600G8.3 (L169P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3333207	NM_001135995.2(ATXN3L):c.217G>T (p.Gly73Cys)	ATXN3L, GS1-600G8.3 (G73C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3333196	NM_001135995.2(ATXN3L):c.361T>C (p.Phe121Leu)	ATXN3L, GS1-600G8.3 (F121L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333188	NM_001135995.2(ATXN3L):c.76G>A (p.Glu26Lys)	ATXN3L, GS1-600G8.3 (E26K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3333178	NM_001135995.2(ATXN3L):c.149A>G (p.Glu50Gly)	ATXN3L, GS1-600G8.3 (E50G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3333169	NM_001135995.2(ATXN3L):c.933C>A (p.His311Gln)	ATXN3L, GS1-600G8.3 (H223Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246785	NC_000023.10:g.(?_12885698)_(13787227_?)dup	ATXN3L, EGFL6 +8 more	Duplication	not provided	GUncertain significance
Select item 3246773	NC_000023.10:g.(?_11308472)_(13765072_?)dup	AMELX, ARHGAP6 +13 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3132261	NM_001135995.2(ATXN3L):c.565C>T (p.Pro189Ser)	ATXN3L, GS1-600G8.3 (P101S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132260	NM_001135995.2(ATXN3L):c.404C>T (p.Ser135Phe)	ATXN3L, GS1-600G8.3 (S135F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132259	NM_001135995.2(ATXN3L):c.364A>G (p.Thr122Ala)	ATXN3L, GS1-600G8.3 (T122A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2660023	NM_001135995.2(ATXN3L):c.763A>G (p.Met255Val)	ATXN3L, GS1-600G8.3 (M167V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2660022	NM_001135995.2(ATXN3L):c.947C>T (p.Thr316Ile)	ATXN3L, GS1-600G8.3 (T228I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2660021	NM_001135995.2(ATXN3L):c.941CAA[2] (p.Thr316del)	ATXN3L, GS1-600G8.3 (T228del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2471587	NM_001135995.2(ATXN3L):c.194C>A (p.Pro65His)	ATXN3L, GS1-600G8.3 (P65H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2464449	NM_001135995.2(ATXN3L):c.307G>A (p.Gly103Ser)	ATXN3L, GS1-600G8.3 (G103S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2423466	NC_000023.10:g.(?_12885698)_(13787227_?)del	ATXN3L, EGFL6 +8 more	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2394450	NM_001135995.2(ATXN3L):c.528A>T (p.Gln176His)	ATXN3L, GS1-600G8.3 (Q176H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317696	NM_001135995.2(ATXN3L):c.835C>T (p.Pro279Ser)	ATXN3L, GS1-600G8.3 (P191S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2292841	NM_001135995.2(ATXN3L):c.778G>A (p.Gly260Arg)	ATXN3L, GS1-600G8.3 (G172R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2280114	NM_001135995.2(ATXN3L):c.200A>G (p.Glu67Gly)	ATXN3L, GS1-600G8.3 (E67G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2240271	NM_001135995.2(ATXN3L):c.47A>G (p.Gln16Arg)	ATXN3L, GS1-600G8.3 (Q16R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217633	NM_001135995.2(ATXN3L):c.695C>T (p.Ala232Val)	ATXN3L, GS1-600G8.3 (A232V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2212147	NM_001135995.2(ATXN3L):c.298C>G (p.Gln100Glu)	ATXN3L, GS1-600G8.3 (Q100E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2204361	NM_001135995.2(ATXN3L):c.113A>C (p.His38Pro)	ATXN3L, GS1-600G8.3 (H38P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526758	GRCh37/hg19 Xp22.2(chrX:13255617-13915678)	ATXN3L, EGFL6 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 980285	GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3	MSL3, GEMIN8 +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 973116	NM_001135995.2(ATXN3L):c.865A>T (p.Lys289Ter)	ATXN3L, GS1-600G8.3 (K289* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability	GLikely benign
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816309	GRCh37/hg19 Xp22.2(chrX:13133660-13638159)x2	ATXN3L, EGFL6	Copy number gain	not provided	GUncertain significance
Select item 816281	GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	FAM9B, AMELX +82 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 816269	GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	TCEANC, CLTRN +90 more	Copy number loss	not provided	GPathogenic
Select item 816245	GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1	GRPR, STS +66 more	Copy number loss	not provided	GPathogenic
Select item 688883	GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 686941	GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 564698	GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3	ANOS1, FANCB +82 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 564694	GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	PRDX4, ADGRG2 +94 more	Copy number loss	not provided	GPathogenic
Select item 564693	GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1	STS, OFD1 +71 more	Copy number loss	not provided	GPathogenic
Select item 564692	GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1	FRMPD4, AP1S2 +59 more	Copy number loss	not provided	GPathogenic
Select item 548984	GRCh37/hg19 Xp22.2(chrX:12910521-13535330)x3	ATXN3L, FAM9C +2 more	Copy number gain	See cases	GUncertain significance
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443634	GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	ACE2, ACOT9 +127 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442812	GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	ACE2, ACOT9 +105 more	Copy number gain	See cases	GPathogenic
Select item 442790	GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	ACE2, ACOT9 +131 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441995	GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	ACE2, ACOT9 +121 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394885	GRCh37/hg19 Xp22.2(chrX:13055014-13951438)x2	ATXN3L, EGFL6 +6 more	Copy number gain	See cases	GUncertain significance
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 393940	GRCh37/hg19 Xp22.2(chrX:11258243-14177713)x1	AMELX, ARHGAP6 +15 more	Copy number loss	See cases	GPathogenic
Select item 393785	GRCh37/hg19 Xp22.2(chrX:12993582-13951438)x3	ATXN3L, EGFL6 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic

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