GADD45G[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 57292	GRCh38/hg38 9q21.33-22.2(chr9:87418580-90406012)x1	C9orf47, CDK20 +131 more	Copy number loss	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 1707461	Single allele	CKS2, DIRAS2 +91 more	Duplication	not specified	GUncertain significance
Select item 3050170	NM_006705.4(GADD45G):c.-1T>A	GADD45G	Single nucleotide variant (5 prime UTR variant)	GADD45G-related disorder	GLikely benign
Select item 2535071	NM_006705.4(GADD45G):c.329A>G (p.Glu110Gly)	GADD45G (E110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042655	NM_006705.4(GADD45G):c.334G>A (p.Gly112Ser)	GADD45G (G112S)	Single nucleotide variant (missense variant)	GADD45G-related disorder	GBenign
Select item 3039485	NM_006705.4(GADD45G):c.370-14CT[3]	GADD45G	Microsatellite (intron variant)	GADD45G-related disorder	GLikely benign
Select item 2321079	NM_006705.4(GADD45G):c.411G>T (p.Lys137Asn)	GADD45G (K137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214571	NM_006705.4(GADD45G):c.443T>G (p.Val148Gly)	GADD45G (V148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060005	NM_006705.4(GADD45G):c.*10G>A	GADD45G	Single nucleotide variant (3 prime UTR variant)	GADD45G-related disorder	GBenign
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 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 1330172	GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1	S1PR3, SHC3 +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 979267	GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)x1	CKS2, DAPK1-IT1 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 815266	GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3	AUH, C9orf47 +19 more	Copy number gain	not provided	GLikely pathogenic
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 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 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

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Items: 38