ClinVar for Gene (Select 84186) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334167	NM_032226.3(ZCCHC7):c.161A>G (p.His54Arg)	ZCCHC7 (H54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334166	NM_032226.3(ZCCHC7):c.1517A>G (p.Glu506Gly)	ZCCHC7 (E506G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334165	NM_032226.3(ZCCHC7):c.236A>T (p.Asp79Val)	ZCCHC7 (D79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3192565	NM_032226.3(ZCCHC7):c.810G>T (p.Arg270Ser)	ZCCHC7 (R270S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192564	NM_032226.3(ZCCHC7):c.703T>C (p.Tyr235His)	ZCCHC7 (Y235H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192563	NM_032226.3(ZCCHC7):c.409A>G (p.Ile137Val)	ZCCHC7 (I137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192562	NM_032226.3(ZCCHC7):c.328G>C (p.Val110Leu)	ZCCHC7 (V110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192561	NM_032226.3(ZCCHC7):c.1399C>T (p.Arg467Cys)	ZCCHC7 (R467C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192560	NM_032226.3(ZCCHC7):c.1350G>A (p.Met450Ile)	ZCCHC7 (M450I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192559	NM_032226.3(ZCCHC7):c.1280T>C (p.Ile427Thr)	ZCCHC7 (I427T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192558	NM_032226.3(ZCCHC7):c.107A>G (p.Tyr36Cys)	ZCCHC7 (Y36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063101	GRCh37/hg19 9p13.2(chr9:36528275-37141555)x1	MELK, PAX5 +1 more	Copy number loss	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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2659194	NM_032226.3(ZCCHC7):c.706T>G (p.Ser236Ala)	ZCCHC7 (S236A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2621203	NM_032226.3(ZCCHC7):c.1070G>A (p.Gly357Asp)	ZCCHC7 (G357D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604223	NM_032226.3(ZCCHC7):c.1600T>C (p.Phe534Leu)	ZCCHC7 (F534L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602608	NM_032226.3(ZCCHC7):c.1466A>G (p.Gln489Arg)	ZCCHC7 (Q489R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597468	NM_032226.3(ZCCHC7):c.1523A>G (p.Lys508Arg)	ZCCHC7 (K508R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593308	NM_032226.3(ZCCHC7):c.521A>G (p.Glu174Gly)	ZCCHC7 (E174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552680	NM_032226.3(ZCCHC7):c.1074T>G (p.His358Gln)	ZCCHC7 (H358Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549580	NM_032226.3(ZCCHC7):c.512A>G (p.Asp171Gly)	ZCCHC7 (D171G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534018	NM_032226.3(ZCCHC7):c.1471C>T (p.Pro491Ser)	ZCCHC7 (P491S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494995	NM_032226.3(ZCCHC7):c.1585G>A (p.Asp529Asn)	ZCCHC7 (D529N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459110	NM_032226.3(ZCCHC7):c.599C>T (p.Ser200Phe)	ZCCHC7 (S200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 2408194	NM_032226.3(ZCCHC7):c.226G>A (p.Val76Ile)	ZCCHC7 (V76I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396098	NM_032226.3(ZCCHC7):c.194C>T (p.Ser65Leu)	ZCCHC7 (S65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341238	NM_032226.3(ZCCHC7):c.1589A>G (p.Asn530Ser)	ZCCHC7 (N530S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332322	NM_032226.3(ZCCHC7):c.830C>T (p.Ser277Phe)	ZCCHC7 (S277F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325358	NM_032226.3(ZCCHC7):c.665C>G (p.Ala222Gly)	ZCCHC7 (A222G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2320490	NM_032226.3(ZCCHC7):c.1060G>A (p.Ala354Thr)	ZCCHC7 (A354T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309116	NM_032226.3(ZCCHC7):c.1052A>G (p.Tyr351Cys)	ZCCHC7 (Y351C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294958	NM_032226.3(ZCCHC7):c.1082A>C (p.His361Pro)	ZCCHC7 (H361P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259663	NM_032226.3(ZCCHC7):c.1340A>C (p.Gln447Pro)	ZCCHC7 (Q447P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236454	NM_032226.3(ZCCHC7):c.1448C>T (p.Pro483Leu)	ZCCHC7 (P483L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215163	NM_032226.3(ZCCHC7):c.1013C>T (p.Pro338Leu)	ZCCHC7 (P338L)	Single nucleotide variant (missense variant +1 more)	not specified	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 1706517	GRCh37/hg19 9p13.2(chr9:37313084-37716205)x3	FBXO10, FRMPD1 +5 more	Copy number gain	See cases	GUncertain significance
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 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 1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	ARHGEF39, ATOSB +42 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210153	GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1	MELK, PAX5 +22 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210152	GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1	ALDH1B1, ANKRD18A +19 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210151	GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1	EXOSC3, FBXO10 +15 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815261	GRCh37/hg19 9p13.2-13.1(chr9:36539229-38787480)x3	SLC25A51, POLR1E +15 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 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
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 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 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 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
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 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 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 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 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 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 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 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic

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