ClinVar for Gene (Select 401494) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283406	NM_001010915.5(HACD4):c.575T>G (p.Phe192Cys)	HACD4 (F192C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283405	NM_001010915.5(HACD4):c.292C>T (p.Leu98Phe)	HACD4 (L61F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283404	NM_001010915.5(HACD4):c.650A>G (p.Glu217Gly)	HACD4 (E180G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283403	NM_001010915.5(HACD4):c.463A>G (p.Ile155Val)	HACD4 (I118V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104106	NM_001010915.5(HACD4):c.78C>G (p.Ile26Met)	HACD4 (I26M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104105	NM_001010915.5(HACD4):c.677C>G (p.Pro226Arg)	HACD4 (P189R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104104	NM_001010915.5(HACD4):c.620T>A (p.Met207Lys)	HACD4 (M258K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104103	NM_001010915.5(HACD4):c.527C>T (p.Ser176Leu)	HACD4 (S176L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104102	NM_001010915.5(HACD4):c.173G>C (p.Gly58Ala)	HACD4 (G21A +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 2685046	GRCh37/hg19 9p21.3(chr9:20663642-21312153)x4	FOCAD, HACD4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2616449	NM_001010915.5(HACD4):c.491C>G (p.Ala164Gly)	HACD4 (A127G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604317	NM_001010915.5(HACD4):c.275C>T (p.Thr92Ile)	HACD4 (T92I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548859	NM_001010915.5(HACD4):c.87T>G (p.Cys29Trp)	HACD4 (C29W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527146	NM_001010915.5(HACD4):c.5G>T (p.Gly2Val)	HACD4 (G2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480080	NM_001010915.5(HACD4):c.7C>A (p.Pro3Thr)	HACD4 (P3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387687	NM_001010915.5(HACD4):c.469C>T (p.Pro157Ser)	HACD4 (P120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376084	NM_001010915.5(HACD4):c.199G>A (p.Val67Ile)	HACD4 (V30I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364748	NM_001010915.5(HACD4):c.598C>G (p.Leu200Val)	HACD4 (L163V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337555	NM_001010915.5(HACD4):c.86G>C (p.Cys29Ser)	HACD4 (C29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307131	NM_001010915.5(HACD4):c.70T>A (p.Tyr24Asn)	HACD4 (Y24N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291177	NM_001010915.5(HACD4):c.197C>T (p.Ser66Phe)	HACD4 (S29F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270384	NM_001010915.5(HACD4):c.445C>G (p.Gln149Glu)	HACD4 (Q112E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220955	NM_001010915.5(HACD4):c.335A>G (p.Tyr112Cys)	HACD4 (Y75C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808181	GRCh37/hg19 9p21.3(chr9:20659492-22347440)x3	CDKN2A, CDKN2B +22 more	Copy number gain	not provided	GUncertain significance
Select item 1808056	GRCh37/hg19 9p21.3(chr9:20907264-21044118)x1	FOCAD, HACD4	Copy number loss	not provided	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 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	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 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
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 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 815245	GRCh37/hg19 9p21.3(chr9:20829681-22069144)x3	CDKN2A, CDKN2B +22 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687575	GRCh37/hg19 9p21.3(chr9:21006599-21161950)x3	HACD4, IFNB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 686468	GRCh37/hg19 9p21.3(chr9:20684175-21308693)x1	FOCAD, HACD4 +10 more	Copy number loss	not provided	GUncertain significance
Select item 685727	GRCh37/hg19 9p21.3(chr9:21019700-21064773)x1	HACD4	Copy number loss	not provided	GUncertain significance
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 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 625554	GRCh37/hg19 9p21.3(chr9:20715401-22136489)	CDKN2A, CDKN2B +22 more	Copy number loss	not provided	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	DMAC1, TYRP1 +89 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 545378	Single allele	CDKN2A, CDKN2A-AS1 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 523160	GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1	RPS6, TYRP1 +51 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443928	GRCh37/hg19 9p21.3(chr9:20684175-21312153)x1	FOCAD, HACD4 +10 more	Copy number loss	See cases	GUncertain significance
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 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 442255	GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3	ACER2, ADAMTSL1 +46 more	Copy number gain	See cases	GPathogenic
Select item 442183	GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3	ACER2, ADAMTSL1 +69 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 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 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 394238	GRCh37/hg19 9p21.3(chr9:20951885-22447709)x1	CDKN2A, CDKN2B +23 more	Copy number loss	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 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 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 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 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 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 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 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 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 148220	GRCh38/hg38 9p21.3(chr9:20687770-21309178)x1	FOCAD, HACD4 +20 more	Copy number loss	See cases	GUncertain significance
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 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 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic

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