ClinVar for Gene (Select 6461) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3161576	NM_003028.3(SHB):c.987C>T (p.Asp329=)	SHB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3161575	NM_003028.3(SHB):c.95G>A (p.Arg32His)	SHB (R32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161574	NM_003028.3(SHB):c.697G>A (p.Gly233Arg)	SHB (G233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161573	NM_003028.3(SHB):c.688G>A (p.Glu230Lys)	SHB (E230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161572	NM_003028.3(SHB):c.686C>G (p.Ala229Gly)	SHB (A229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161571	NM_003028.3(SHB):c.667A>G (p.Lys223Glu)	SHB (K223E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161570	NM_003028.3(SHB):c.539C>T (p.Ser180Phe)	SHB (S180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161569	NM_003028.3(SHB):c.536T>C (p.Ile179Thr)	SHB (I179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161568	NM_003028.3(SHB):c.327G>A (p.Met109Ile)	SHB (M109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161567	NM_003028.3(SHB):c.1371G>A (p.Met457Ile)	SHB (M457I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161566	NM_003028.3(SHB):c.131T>C (p.Val44Ala)	SHB (V44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161565	NM_003028.3(SHB):c.1111C>T (p.Arg371Trp)	SHB (R371W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161564	NM_003028.3(SHB):c.1031G>A (p.Arg344Gln)	SHB (R344Q)	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 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685350	GRCh37/hg19 9p13.2-13.1(chr9:37952631-38787480)x1	ALDH1B1, ANKRD18A +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2620391	NM_003028.3(SHB):c.362C>T (p.Pro121Leu)	SHB (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613770	NM_003028.3(SHB):c.38A>G (p.Asn13Ser)	SHB (N13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598446	NM_003028.3(SHB):c.715A>G (p.Lys239Glu)	SHB (K239E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596685	NM_003028.3(SHB):c.454T>G (p.Ser152Ala)	SHB (S152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569245	NM_003028.3(SHB):c.716A>G (p.Lys239Arg)	SHB (K239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556702	NM_003028.3(SHB):c.335T>G (p.Leu112Arg)	SHB (L112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543973	NM_003028.3(SHB):c.220A>G (p.Ser74Gly)	SHB (S74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540154	NM_003028.3(SHB):c.1426G>A (p.Asp476Asn)	SHB (D476N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538367	NM_003028.3(SHB):c.1333T>G (p.Ser445Ala)	SHB (S445A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534547	NM_003028.3(SHB):c.371T>G (p.Val124Gly)	SHB (V124G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526257	NM_003028.3(SHB):c.421T>C (p.Cys141Arg)	SHB (C141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487351	NM_003028.3(SHB):c.679T>C (p.Ser227Pro)	SHB (S227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475697	NM_003028.3(SHB):c.1187G>A (p.Gly396Glu)	SHB (G396E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474924	NM_003028.3(SHB):c.518C>T (p.Pro173Leu)	SHB (P173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471270	NM_003028.3(SHB):c.481C>T (p.Leu161Phe)	SHB (L161F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406354	NM_003028.3(SHB):c.216C>A (p.Asp72Glu)	SHB (D72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388169	NM_003028.3(SHB):c.961C>T (p.Arg321Trp)	SHB (R321W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376264	NM_003028.3(SHB):c.382T>C (p.Phe128Leu)	SHB (F128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374333	NM_003028.3(SHB):c.1243A>G (p.Ile415Val)	SHB (I415V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372141	NM_003028.3(SHB):c.537C>G (p.Ile179Met)	SHB (I179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366404	NM_003028.3(SHB):c.371T>C (p.Val124Ala)	SHB (V124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355981	NM_003028.3(SHB):c.119C>A (p.Pro40His)	SHB (P40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338130	NM_003028.3(SHB):c.29G>A (p.Ser10Asn)	SHB (S10N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337168	NM_003028.3(SHB):c.969C>G (p.Ser323Arg)	SHB (S323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320727	NM_003028.3(SHB):c.1124G>T (p.Arg375Leu)	SHB (R375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317990	NM_003028.3(SHB):c.786G>T (p.Lys262Asn)	SHB (K262N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302783	NM_003028.3(SHB):c.440G>C (p.Gly147Ala)	SHB (G147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279775	NM_003028.3(SHB):c.676G>C (p.Ala226Pro)	SHB (A226P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245976	NM_003028.3(SHB):c.997G>A (p.Ala333Thr)	SHB (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242310	NM_003028.3(SHB):c.625A>T (p.Thr209Ser)	SHB (T209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237833	NM_003028.3(SHB):c.1015C>T (p.Pro339Ser)	SHB (P339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223694	NM_003028.3(SHB):c.467C>G (p.Ser156Cys)	SHB (S156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218768	NM_003028.3(SHB):c.128C>T (p.Ala43Val)	SHB (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217959	NM_003028.3(SHB):c.1326T>A (p.His442Gln)	SHB (H442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +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 1527520	GRCh37/hg19 9p13.2(chr9:37628789-37999486)	DCAF10, EXOSC3 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1210153	GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1	GLIPR2, DCAF10 +22 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210152	GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1	ALDH1B1, PAX5 +19 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1210151	GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1	GRHPR, IGFBPL1 +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	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 732651	NM_003028.3(SHB):c.1422G>A (p.Pro474=)	SHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729807	NM_003028.3(SHB):c.369G>A (p.Gly123=)	SHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714425	NM_003028.3(SHB):c.189C>T (p.Phe63=)	SHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714424	NM_003028.3(SHB):c.1509C>T (p.Pro503=)	SHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +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	ACER2, ACO1 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	IFNA1, IFNA10 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	ABHD17B, ACO1 +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	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ANKRD18B, APTX +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)	ABCA1, ABCA2 +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	TRMT10B, TRPM3 +274 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	ACER2, ACO1 +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	CHMP5, VLDLR +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	ACO1, ADAMTSL1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic

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