ClinVar for Gene (Select 84270) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263306	NM_032310.5(CARD19):c.341A>C (p.Gln114Pro)	CARD19 (Q114P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137322	NM_032310.5(CARD19):c.479C>T (p.Ser160Leu)	CARD19 (S140L +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3137321	NM_032310.5(CARD19):c.41C>T (p.Thr14Met)	CARD19 (T14M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137320	NM_032310.5(CARD19):c.281G>T (p.Arg94Leu)	CARD19 (R94L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137319	NM_032310.5(CARD19):c.223C>T (p.Arg75Trp)	CARD19 (R75W)	Single nucleotide variant (missense variant +2 more)	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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2659308	NM_032310.5(CARD19):c.144G>A (p.Ala48=)	CARD19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2608087	NM_032310.5(CARD19):c.64C>T (p.Arg22Cys)	CARD19 (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569804	NM_032310.5(CARD19):c.463C>A (p.Arg155Ser)	CARD19 (R135S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491910	NM_032310.5(CARD19):c.509G>C (p.Arg170Pro)	CARD19 (R150P +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2406794	NM_032310.5(CARD19):c.175C>T (p.Arg59Cys)	CARD19 (R59C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399183	NM_032310.5(CARD19):c.497G>C (p.Arg166Thr)	CARD19 (R146T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387986	NM_032310.5(CARD19):c.472G>A (p.Gly158Ser)	CARD19 (R90Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378341	NM_032310.5(CARD19):c.466G>A (p.Val156Ile)	CARD19 (V136I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344230	NM_032310.5(CARD19):c.155G>A (p.Arg52Gln)	CARD19 (R52Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299515	NM_032310.5(CARD19):c.509G>A (p.Arg170His)	CARD19 (R170H +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2287908	NM_032310.5(CARD19):c.175C>A (p.Arg59Ser)	CARD19 (R59S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269787	NM_032310.5(CARD19):c.181C>T (p.Arg61Trp)	CARD19 (R61W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256544	NM_032310.5(CARD19):c.154C>T (p.Arg52Trp)	CARD19 (R52W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808833	GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1	AOPEP, BARX1 +22 more	Copy number loss	not provided	GPathogenic
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 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687608	GRCh37/hg19 9q22.31(chr9:95258118-95888821)x1	BICD2, CARD19 +7 more	Copy number loss	not provided	GUncertain significance
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 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 563667	GRCh37/hg19 9q22.31(chr9:94907633-96493970)x1	ASPN, BICD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +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 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 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	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	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)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 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	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50