ClinVar for Gene (Select 54881) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325507	NM_017746.4(TEX10):c.1973A>G (p.His658Arg)	TEX10 (H661R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325506	NM_017746.4(TEX10):c.1943G>A (p.Ser648Asn)	TEX10 (S651N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325505	NM_017746.4(TEX10):c.106A>G (p.Lys36Glu)	TEX10 (K36E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325504	NM_017746.4(TEX10):c.1726A>G (p.Ile576Val)	TEX10 (I576V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325503	NM_017746.4(TEX10):c.1831C>T (p.Pro611Ser)	TEX10 (P614S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176251	NM_017746.4(TEX10):c.817G>A (p.Ala273Thr)	TEX10 (A273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176250	NM_017746.4(TEX10):c.359A>G (p.Gln120Arg)	TEX10 (Q123R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176249	NM_017746.4(TEX10):c.306A>C (p.Glu102Asp)	TEX10 (E105D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176248	NM_017746.4(TEX10):c.2626C>T (p.His876Tyr)	TEX10 (H860Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176247	NM_017746.4(TEX10):c.2557G>A (p.Gly853Arg)	TEX10 (G837R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176246	NM_017746.4(TEX10):c.2527A>G (p.Met843Val)	TEX10 (M843V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176245	NM_017746.4(TEX10):c.1648C>T (p.Arg550Cys)	TEX10 (R550C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176244	NM_017746.4(TEX10):c.1415C>G (p.Ser472Cys)	TEX10 (S472C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176243	NM_017746.4(TEX10):c.130C>T (p.Leu44Phe)	TEX10 (L44F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176242	NM_017746.4(TEX10):c.1033G>C (p.Gly345Arg)	TEX10 (G345R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2616836	NM_017746.4(TEX10):c.1772G>A (p.Ser591Asn)	TEX10 (S594N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609726	NM_017746.4(TEX10):c.1190G>A (p.Ser397Asn)	TEX10 (S400N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602604	NM_017746.4(TEX10):c.796T>C (p.Phe266Leu)	TEX10 (F266L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538339	NM_017746.4(TEX10):c.1169A>C (p.Asp390Ala)	TEX10 (D390A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469429	NM_017746.4(TEX10):c.307G>A (p.Val103Met)	TEX10 (V103M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408555	NM_017746.4(TEX10):c.1496C>T (p.Thr499Ile)	TEX10 (T499I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403893	NM_017746.4(TEX10):c.2429C>G (p.Thr810Ser)	TEX10 (T810S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392229	NM_017746.4(TEX10):c.840G>C (p.Gln280His)	TEX10 (Q280H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381635	NM_017746.4(TEX10):c.19C>T (p.Arg7Cys)	TEX10 (R7C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380625	NM_017746.4(TEX10):c.394G>C (p.Glu132Gln)	TEX10 (E135Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353283	NM_017746.4(TEX10):c.85A>G (p.Thr29Ala)	TEX10 (T29A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345227	NM_017746.4(TEX10):c.835A>G (p.Ile279Val)	TEX10 (I282V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338803	NM_017746.4(TEX10):c.2677A>G (p.Thr893Ala)	TEX10 (T893A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316545	NM_017746.4(TEX10):c.1565T>C (p.Leu522Ser)	TEX10 (L522S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314033	NM_017746.4(TEX10):c.2269A>G (p.Ile757Val)	TEX10 (I757V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299280	NM_017746.4(TEX10):c.659C>T (p.Ser220Phe)	TEX10 (S223F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293891	NM_017746.4(TEX10):c.1265C>T (p.Thr422Ile)	TEX10 (T422I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290666	NM_017746.4(TEX10):c.2111G>A (p.Gly704Glu)	TEX10 (G704E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278577	NM_017746.4(TEX10):c.2744T>C (p.Ile915Thr)	TEX10 (I899T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276822	NM_017746.4(TEX10):c.2548A>G (p.Asn850Asp)	TEX10 (N850D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271122	NM_017746.4(TEX10):c.2206G>A (p.Val736Ile)	TEX10 (V736I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262985	NM_017746.4(TEX10):c.1946T>G (p.Leu649Trp)	TEX10 (L649W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258521	NM_017746.4(TEX10):c.1588A>C (p.Ile530Leu)	TEX10 (I530L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215365	NM_017746.4(TEX10):c.1439A>G (p.Asn480Ser)	TEX10 (N480S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206017	NM_017746.4(TEX10):c.2031T>A (p.Asp677Glu)	TEX10 (D677E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 74