23379[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 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 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 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 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 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	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 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 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 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 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 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 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 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 3120433	NM_022901.3(LRRC19):c.1082T>C (p.Ile361Thr)	IFT74, LRRC19 (I361T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380708	NM_022901.3(LRRC19):c.1036C>T (p.His346Tyr)	IFT74, LRRC19 (H346Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120438	NM_022901.3(LRRC19):c.975C>A (p.Ser325Arg)	IFT74, LRRC19 (S325R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291511	NM_022901.3(LRRC19):c.958T>G (p.Phe320Val)	IFT74, LRRC19 (F320V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559547	NM_022901.3(LRRC19):c.871A>G (p.Ile291Val)	IFT74, LRRC19 (I291V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276688	NM_022901.3(LRRC19):c.866T>C (p.Ile289Thr)	IFT74, LRRC19 (I289T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291512	NM_022901.3(LRRC19):c.836C>G (p.Thr279Ser)	IFT74, LRRC19 (T279S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389728	NM_022901.3(LRRC19):c.827T>G (p.Val276Gly)	IFT74, LRRC19 (V276G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291513	NM_022901.3(LRRC19):c.806G>T (p.Ser269Ile)	IFT74, LRRC19 (S269I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579059	NM_022901.3(LRRC19):c.720T>C (p.Ile240=)	IFT74, LRRC19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3291514	NM_022901.3(LRRC19):c.695C>T (p.Ser232Leu)	IFT74, LRRC19 (S232L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120437	NM_022901.3(LRRC19):c.623A>C (p.Tyr208Ser)	IFT74, LRRC19 (Y208S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254176	NM_022901.3(LRRC19):c.586G>T (p.Val196Leu)	IFT74, LRRC19 (V196L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465882	NM_022901.3(LRRC19):c.553T>C (p.Phe185Leu)	IFT74, LRRC19 (F185L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2529098	NM_022901.3(LRRC19):c.461G>A (p.Gly154Asp)	IFT74, LRRC19 (G154D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257531	NM_022901.3(LRRC19):c.424G>T (p.Val142Leu)	LRRC19, IFT74 (V142L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2334566	NM_022901.3(LRRC19):c.367C>G (p.Leu123Val)	IFT74, LRRC19 (L123V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120435	NM_022901.3(LRRC19):c.323C>T (p.Ser108Phe)	IFT74, LRRC19 (S108F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279042	NM_022901.3(LRRC19):c.214T>C (p.Tyr72His)	IFT74, LRRC19 (Y72H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555683	NM_022901.3(LRRC19):c.158A>C (p.Asp53Ala)	IFT74, LRRC19 (D53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120434	NM_022901.3(LRRC19):c.138G>T (p.Lys46Asn)	IFT74, LRRC19 (K46N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2239180	NM_022901.3(LRRC19):c.13G>A (p.Gly5Ser)	IFT74, LRRC19 (G5S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3245303	NC_000009.11:g.(?_26978106)_(27029122_?)del	IFT74, LRRC19	Deletion	not provided	GPathogenic
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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2423693	NC_000009.11:g.(?_26905509)_(27018705_?)dup	IFT74, LRRC19 +1 more	Duplication	not provided	GUncertain significance
Select item 2423692	NC_000009.11:g.(?_26984235)_(27009176_?)del	IFT74, LRRC19	Deletion	not provided	GPathogenic
Select item 2423497	NC_000009.11:g.(?_26934991)_(27220163_?)dup	IFT74, LRRC19 +2 more	Duplication	not provided	GUncertain significance
Select item 2423496	NC_000009.11:g.(?_26946875)_(27109660_?)dup	IFT74, LRRC19 +2 more	Duplication	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 1527517	GRCh37/hg19 9p21.2(chr9:27000339-27085457)	IFT74, LRRC19	Copy number loss	not specified	GUncertain significance
Select item 1527516	GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948)	C9orf72, CAAP1 +13 more	Copy number loss	not specified	GUncertain significance
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 1525365	NC_000009.11:g.(?_26984235)_(27173380_?)dup	IFT74, LRRC19 +1 more	Duplication	not provided	GUncertain significance
Select item 1410015	NC_000009.11:g.(?_26905509)_(27573526_?)dup	C9orf72, EQTN +5 more	Duplication	not provided	GUncertain significance
Select item 980348	GRCh37/hg19 9p21.2(chr9:26461273-27541041)x3	CAAP1, EQTN +5 more	Copy number gain	not provided	GUncertain significance
Select item 980347	GRCh37/hg19 9p21.2(chr9:26545337-27494803)x3	CAAP1, EQTN +5 more	Copy number gain	not provided	GUncertain significance
Select item 980346	GRCh37/hg19 9p21.2(chr9:26604087-27065569)x3	IFT74, PLAA +2 more	Copy number gain	not provided	GLikely benign
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 688531	GRCh37/hg19 9p21.2(chr9:26909294-27000990)x1	IFT74, LRRC19 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687670	GRCh37/hg19 9p21.2(chr9:26984926-27219845)x1	IFT74, LRRC19 +1 more	Copy number loss	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 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 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
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 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 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
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

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