30087[HGNC] - ClinVar

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Items: 78

	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 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 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	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 2470836	NM_139246.5(TSTD2):c.1547T>C (p.Met516Thr)	TSTD2 (M516T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349196	NM_139246.5(TSTD2):c.1519G>A (p.Asp507Asn)	TSTD2 (D507N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184002	NM_139246.5(TSTD2):c.1516C>A (p.Pro506Thr)	TSTD2 (P506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273489	NM_139246.5(TSTD2):c.1471G>A (p.Glu491Lys)	TSTD2 (E491K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219177	NM_139246.5(TSTD2):c.1469G>T (p.Arg490Met)	TSTD2 (R490M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281810	NM_139246.5(TSTD2):c.1459C>T (p.Arg487Cys)	TSTD2 (R487C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329728	NM_139246.5(TSTD2):c.1406G>A (p.Gly469Asp)	TSTD2 (G469D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248201	NM_139246.5(TSTD2):c.1298C>G (p.Ser433Cys)	TSTD2 (S433C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510269	NM_139246.5(TSTD2):c.1273C>T (p.Arg425Cys)	TSTD2 (R425C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317655	NM_139246.5(TSTD2):c.1246G>A (p.Val416Met)	TSTD2 (V416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329732	NM_139246.5(TSTD2):c.1148G>T (p.Gly383Val)	TSTD2 (G383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184001	NM_139246.5(TSTD2):c.1088G>A (p.Arg363Gln)	TSTD2 (R363Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237352	NM_139246.5(TSTD2):c.1079G>A (p.Arg360His)	TSTD2 (R360H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512100	NM_139246.5(TSTD2):c.1078C>T (p.Arg360Cys)	TSTD2 (R360C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405444	NM_139246.5(TSTD2):c.1049G>C (p.Arg350Thr)	TSTD2 (R350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329726	NM_139246.5(TSTD2):c.1038C>G (p.Phe346Leu)	TSTD2 (F346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267883	NM_139246.5(TSTD2):c.1010G>A (p.Ser337Asn)	TSTD2 (S337N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261487	NM_139246.5(TSTD2):c.959G>A (p.Arg320Gln)	TSTD2 (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409084	NM_139246.5(TSTD2):c.956G>A (p.Gly319Glu)	TSTD2 (G319E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257351	NM_139246.5(TSTD2):c.807C>A (p.Ser269Arg)	TSTD2 (S269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184009	NM_139246.5(TSTD2):c.790G>T (p.Val264Leu)	TSTD2 (V264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473562	NM_139246.5(TSTD2):c.773G>T (p.Gly258Val)	TSTD2 (G258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392456	NM_139246.5(TSTD2):c.767G>A (p.Arg256His)	TSTD2 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319643	NM_139246.5(TSTD2):c.761A>G (p.Glu254Gly)	TSTD2 (E254G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329731	NM_139246.5(TSTD2):c.760G>A (p.Glu254Lys)	TSTD2 (E254K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329729	NM_139246.5(TSTD2):c.737A>G (p.Lys246Arg)	TSTD2 (K246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329727	NM_139246.5(TSTD2):c.712T>G (p.Cys238Gly)	TSTD2 (C238G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184007	NM_139246.5(TSTD2):c.664C>T (p.Leu222Phe)	TSTD2 (L222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329730	NM_139246.5(TSTD2):c.647G>A (p.Ser216Asn)	TSTD2 (S216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235553	NM_139246.5(TSTD2):c.641G>T (p.Gly214Val)	TSTD2 (G214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184006	NM_139246.5(TSTD2):c.629A>G (p.Asn210Ser)	TSTD2 (N210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184005	NM_139246.5(TSTD2):c.616G>A (p.Ala206Thr)	TSTD2 (A206T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184004	NM_139246.5(TSTD2):c.367A>G (p.Lys123Glu)	TSTD2 (K123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555713	NM_139246.5(TSTD2):c.364T>A (p.Ser122Thr)	TSTD2 (S122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621149	NM_139246.5(TSTD2):c.331A>G (p.Ile111Val)	TSTD2 (I111V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606765	NM_139246.5(TSTD2):c.299A>G (p.His100Arg)	TSTD2 (H100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229253	NM_139246.5(TSTD2):c.278A>G (p.His93Arg)	TSTD2 (H93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184003	NM_139246.5(TSTD2):c.275T>C (p.Ile92Thr)	TSTD2 (I92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319553	NM_139246.5(TSTD2):c.40G>C (p.Glu14Gln)	TSTD2 (E14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293199	NM_139246.5(TSTD2):c.22G>A (p.Asp8Asn)	TSTD2 (D8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292419	NM_139246.5(TSTD2):c.5C>T (p.Pro2Leu)	TSTD2 (P2L)	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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2425182	NC_000009.11:g.(?_100190748)_(103062956_?)dup	ALG2, ANKS6 +22 more	Duplication	Congenital myasthenic syndrome 14 +2 more	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 1459792	NC_000009.11:g.(?_100190748)_(103062956_?)del	SEC61B, STX17 +22 more	Deletion	Nephronophthisis	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 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 832760	NC_000009.12:g.(?_97428446)_(98796511_?)dup	ANKS6, ANP32B +13 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 815271	GRCh37/hg19 9q22.33(chr9:100306203-100528811)x3	TSTD2, NCBP1 +2 more	Copy number gain	not provided	GLikely benign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687713	GRCh37/hg19 9q22.33(chr9:100310710-100535203)x3	NCBP1, TMOD1 +2 more	Copy number gain	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 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 442793	GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3	ALG2, ANKS6 +40 more	Copy number gain	See cases	GLikely pathogenic
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: 78