ClinVar for Gene (Select 768) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262611	NM_001216.3(CA9):c.207G>C (p.Glu69Asp)	CA9 (E69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262610	NM_001216.3(CA9):c.314A>C (p.Glu105Ala)	CA9 (E105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262609	NM_001216.3(CA9):c.1108C>T (p.Arg370Trp)	CA9 (R370W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262608	NM_001216.3(CA9):c.1008T>G (p.Cys336Trp)	CA9 (C336W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262607	NM_001216.3(CA9):c.884G>A (p.Arg295His)	CA9 (R295H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3262606	NM_001216.3(CA9):c.329T>C (p.Leu110Ser)	CA9 (L110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262605	NM_001216.3(CA9):c.1130C>A (p.Ala377Glu)	CA9 (A377E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262603	NM_001216.3(CA9):c.775T>C (p.Phe259Leu)	CA9 (F259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262602	NM_001216.3(CA9):c.1288G>A (p.Ala430Thr)	CA9 (A430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262601	NM_001216.3(CA9):c.259G>A (p.Glu87Lys)	CA9 (E87K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262600	NM_001216.3(CA9):c.197C>T (p.Pro66Leu)	CA9 (P66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262599	NM_001216.3(CA9):c.536C>A (p.Pro179His)	CA9 (P179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262598	NM_001216.3(CA9):c.454G>A (p.Val152Met)	CA9 (V152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262597	NM_001216.3(CA9):c.1196G>A (p.Arg399Gln)	CA9 (R399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262596	NM_001216.3(CA9):c.184G>A (p.Glu62Lys)	CA9 (E62K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	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 3136163	NM_001216.3(CA9):c.989C>T (p.Ser330Phe)	CA9 (S330F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136161	NM_001216.3(CA9):c.898G>A (p.Ala300Thr)	CA9 (A300T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136160	NM_001216.3(CA9):c.710C>T (p.Ser237Leu)	CA9 (S237L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136159	NM_001216.3(CA9):c.661C>G (p.Arg221Gly)	CA9 (R221G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136158	NM_001216.3(CA9):c.527C>T (p.Ala176Val)	CA9 (A176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136157	NM_001216.3(CA9):c.1334G>C (p.Gly445Ala)	CA9 (G445A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136156	NM_001216.3(CA9):c.1298T>C (p.Val433Ala)	CA9 (V433A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136155	NM_001216.3(CA9):c.1130C>T (p.Ala377Val)	CA9 (A377V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2590715	NM_001216.3(CA9):c.541G>A (p.Glu181Lys)	CA9 (E181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547232	NM_001216.3(CA9):c.1343G>A (p.Ser448Asn)	CA9 (S448N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522873	NM_001216.3(CA9):c.1285G>A (p.Val429Ile)	CA9 (V429I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518218	NM_001216.3(CA9):c.211T>C (p.Ser71Pro)	CA9 (S71P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516549	NM_001216.3(CA9):c.302A>G (p.Lys101Arg)	CA9 (K101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510349	NM_001216.3(CA9):c.940T>A (p.Ser314Thr)	CA9 (S314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482491	NM_001216.3(CA9):c.617T>C (p.Leu206Pro)	CA9 (L206P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477367	NM_001216.3(CA9):c.208G>T (p.Asp70Tyr)	CA9 (D70Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462614	NM_001216.3(CA9):c.244G>T (p.Asp82Tyr)	CA9 (D82Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454501	NM_001216.3(CA9):c.1289C>T (p.Ala430Val)	CA9 (A430V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	RGP1, RMRP +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 2401608	NM_001216.3(CA9):c.785T>G (p.Val262Gly)	CA9 (V262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380178	NM_001216.3(CA9):c.184G>C (p.Glu62Gln)	CA9 (E62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356472	NM_001216.3(CA9):c.1133C>T (p.Thr378Met)	CA9 (T378M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331958	NM_001216.3(CA9):c.1177G>A (p.Gly393Arg)	CA9 (G393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315323	NM_001216.3(CA9):c.286C>T (p.Pro96Ser)	CA9 (P96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306735	NM_001216.3(CA9):c.848C>T (p.Pro283Leu)	CA9 (P283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288361	NM_001216.3(CA9):c.1043C>T (p.Thr348Ile)	CA9 (T348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213206	NM_001216.3(CA9):c.688G>A (p.Gly230Arg)	CA9 (G230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207309	NM_001216.3(CA9):c.937A>G (p.Ile313Val)	CA9 (I313V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204803	NM_001216.3(CA9):c.533G>T (p.Arg178Leu)	CA9 (R178L)	Single nucleotide variant (missense variant)	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 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 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 1070621	NC_000009.11:g.(?_34459004)_(36276941_?)del	ARHGEF39, ARID3C +48 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	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 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 739805	NM_001216.3(CA9):c.342T>C (p.Pro114=)	CA9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 584345	NC_000009.11:g.(?_34458984)_(36277059_?)dup	ARHGEF39, ARID3C +48 more	Duplication	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 583851	NC_000009.11:g.(?_34458984)_(35809462_?)del	PIGO, RGP1 +37 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
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 473211	NC_000009.11:g.(?_34458984)_(35809462_?)dup	NPR2, TLN1 +37 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
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

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