ClinVar for Gene (Select 26578) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303628	NM_012383.5(OSTF1):c.257T>G (p.Leu86Trp)	OSTF1 (L86W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303627	NM_012383.5(OSTF1):c.356A>G (p.Lys119Arg)	OSTF1 (K119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303626	NM_012383.5(OSTF1):c.629A>G (p.Asp210Gly)	OSTF1 (D210G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303625	NM_012383.5(OSTF1):c.364G>C (p.Val122Leu)	OSTF1 (V122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207197	NM_012383.5(OSTF1):c.545A>G (p.Asn182Ser)	OSTF1 (N182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207196	NM_012383.5(OSTF1):c.187A>G (p.Ser63Gly)	OSTF1 (S63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063084	GRCh37/hg19 9q21.13(chr9:76897502-78586137)x3	C9orf40, CARNMT1 +6 more	Copy number gain	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 2615321	NM_012383.5(OSTF1):c.155G>C (p.Gly52Ala)	OSTF1 (G52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551317	NM_012383.5(OSTF1):c.488G>A (p.Gly163Asp)	OSTF1 (G163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389003	NM_012383.5(OSTF1):c.506G>C (p.Arg169Thr)	OSTF1 (R169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388317	NM_012383.5(OSTF1):c.136G>A (p.Asp46Asn)	OSTF1 (D46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356931	NM_012383.5(OSTF1):c.625G>T (p.Asp209Tyr)	OSTF1 (D209Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342158	NM_012383.5(OSTF1):c.625G>A (p.Asp209Asn)	OSTF1 (D209N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224318	NM_012383.5(OSTF1):c.461A>T (p.Asp154Val)	OSTF1 (D154V)	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 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1340139	GRCh37/hg19 9q21.13(chr9:77683026-78520915)x3	NMRK1, OSTF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	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 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 563676	GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1	ALDH1A1, ANXA1 +24 more	Copy number loss	not provided	GPathogenic
Select item 563664	GRCh37/hg19 9q21.13(chr9:77449280-78560923)x1	PCSK5, CARNMT1 +5 more	Copy number loss	not provided	GUncertain significance
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 442687	GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3	ABHD17B, ALDH1A1 +50 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 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 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 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 153582	GRCh38/hg38 9q21.13(chr9:74282586-75968293)x3	C9orf40, CARNMT1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 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 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	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 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 59087	GRCh38/hg38 9q21.13(chr9:74887986-75718195)x1	C9orf40, CARNMT1 +11 more	Copy number loss	See cases	GUncertain significance
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55