ClinVar for Gene (Select 11046) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164361	NM_007001.3(SLC35D2):c.957C>G (p.Ser319Arg)	SLC35D2, SLC35D2-HSD17B3 (S231R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164359	NM_007001.3(SLC35D2):c.712G>A (p.Val238Ile)	SLC35D2, SLC35D2-HSD17B3 (V238I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164358	NM_007001.3(SLC35D2):c.302A>G (p.Tyr101Cys)	SLC35D2, SLC35D2-HSD17B3 (Y101C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164356	NM_007001.3(SLC35D2):c.134A>G (p.Asn45Ser)	LOC130002147, SLC35D2 +1 more (N45S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2602982	NM_007001.3(SLC35D2):c.580A>G (p.Met194Val)	SLC35D2, SLC35D2-HSD17B3 (M194V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559199	NM_007001.3(SLC35D2):c.137A>G (p.Lys46Arg)	LOC130002147, SLC35D2 +1 more (K46R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523442	NM_007001.3(SLC35D2):c.107C>A (p.Thr36Asn)	LOC130002147, SLC35D2 +1 more (T36N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377341	NM_007001.3(SLC35D2):c.155A>G (p.Tyr52Cys)	LOC130002147, SLC35D2 +1 more (Y52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356544	NM_007001.3(SLC35D2):c.353C>T (p.Pro118Leu)	SLC35D2, SLC35D2-HSD17B3 (P118L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340153	NM_007001.3(SLC35D2):c.312C>A (p.Asn104Lys)	SLC35D2, SLC35D2-HSD17B3 (N104K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337099	NM_007001.3(SLC35D2):c.765G>A (p.Met255Ile)	SLC35D2, SLC35D2-HSD17B3 (M167I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330185	NM_007001.3(SLC35D2):c.136A>G (p.Lys46Glu)	LOC130002147, SLC35D2 +1 more (K46E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302406	NM_007001.3(SLC35D2):c.301T>A (p.Tyr101Asn)	SLC35D2, SLC35D2-HSD17B3 (Y101N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299799	NM_007001.3(SLC35D2):c.635T>C (p.Met212Thr)	SLC35D2, SLC35D2-HSD17B3 (M212T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277101	NM_007001.3(SLC35D2):c.518A>C (p.Tyr173Ser)	SLC35D2, SLC35D2-HSD17B3 (Y173S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256397	NM_007001.3(SLC35D2):c.450T>G (p.Ser150Arg)	SLC35D2, SLC35D2-HSD17B3 (S150R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250157	NM_007001.3(SLC35D2):c.32G>A (p.Gly11Asp)	LOC130002147, SLC35D2 +1 more (G11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226088	NM_007001.3(SLC35D2):c.728A>G (p.Gln243Arg)	SLC35D2, SLC35D2-HSD17B3 (Q243R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214337	NM_007001.3(SLC35D2):c.688A>G (p.Thr230Ala)	SLC35D2, SLC35D2-HSD17B3 (T230A)	Single nucleotide variant (missense variant +2 more)	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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	MSANTD3, MSANTD3-TMEFF1 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 688872	GRCh37/hg19 9q22.32-22.33(chr9:98849008-99405481)x1	CDC14B, HABP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688061	GRCh37/hg19 9q22.32-22.33(chr9:98156960-99345624)x1	CDC14B, ERCC6L2 +5 more	Copy number loss	not provided	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 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 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 443720	GRCh37/hg19 9q22.32-22.33(chr9:96732332-100175689)x1	AOPEP, CCDC180 +26 more	Copy number loss	See cases	GPathogenic
Select item 442793	GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3	ALG2, ANKS6 +40 more	Copy number gain	See cases	GLikely pathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394717	GRCh37/hg19 9q22.32-22.33(chr9:97355862-99805480)x1	AOPEP, CDC14B +17 more	Copy number loss	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 217298	GRCh37/hg19 9q22.32(97579146-99280739)x1	LOC130002135, LOC130002136 +94 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59904	GRCh38/hg38 9q22.32-22.33(chr9:96094968-96620662)x3	CDC14B, HABP4 +32 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 58