ClinVar for Gene (Select 219938) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321861	NM_174927.3(SPATA19):c.212T>C (p.Met71Thr)	SPATA19 (M71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321860	NM_174927.3(SPATA19):c.452C>T (p.Thr151Ile)	SPATA19 (T151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321859	NM_174927.3(SPATA19):c.227C>T (p.Pro76Leu)	SPATA19 (P76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168235	NM_174927.3(SPATA19):c.80A>T (p.Asp27Val)	SPATA19 (D27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168234	NM_174927.3(SPATA19):c.482G>A (p.Arg161Lys)	SPATA19 (R161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168233	NM_174927.3(SPATA19):c.446G>A (p.Arg149His)	SPATA19 (R149H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168232	NM_174927.3(SPATA19):c.407T>C (p.Met136Thr)	SPATA19 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168231	NM_174927.3(SPATA19):c.352A>G (p.Arg118Gly)	SPATA19 (R118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168230	NM_174927.3(SPATA19):c.265G>A (p.Val89Met)	SPATA19 (V89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168228	NM_174927.3(SPATA19):c.214T>C (p.Ser72Pro)	SPATA19 (S72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3063191	GRCh37/hg19 11q25(chr11:132499295-134938470)x1	ACAD8, B3GAT1 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2684661	GRCh37/hg19 11q25(chr11:133599316-133822775)x3	IGSF9B, LINC02743 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684660	GRCh37/hg19 11q25(chr11:133150362-133817643)x3	IGSF9B, LINC02743 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2533830	NM_174927.3(SPATA19):c.237T>G (p.His79Gln)	SPATA19 (H79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528310	NM_174927.3(SPATA19):c.305A>T (p.Asn102Ile)	SPATA19 (N102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519536	NM_174927.3(SPATA19):c.484C>A (p.Pro162Thr)	SPATA19 (P162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511960	NM_174927.3(SPATA19):c.368G>A (p.Arg123His)	SPATA19 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2505490	GRCh37/hg19 11q25(chr11:131952484-134938470)x1	NTM, SPATA19 +12 more	Copy number loss	Feeding difficulties +3 more	GPathogenic
Select item 2337830	NM_174927.3(SPATA19):c.488C>T (p.Ser163Phe)	SPATA19 (S163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313935	NM_174927.3(SPATA19):c.120T>A (p.His40Gln)	SPATA19 (H40Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2218251	NM_174927.3(SPATA19):c.337C>G (p.Arg113Gly)	SPATA19 (R113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808846	GRCh37/hg19 11q25(chr11:133238757-134330730)x3	ACAD8, B3GAT1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1807802	GRCh37/hg19 11q25(chr11:130935635-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1711169	GRCh37/hg19 11q25(chr11:130880039-134938470)x3	ACAD8, B3GAT1 +12 more	Copy number gain	See cases	GPathogenic
Select item 1707620	GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1	TP53AIP1, VPS26B +30 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703539	GRCh37/hg19 11q24.3-25(chr11:130173156-134938470)	ACAD8, ADAMTS15 +17 more	Copy number gain	Seizure	GLikely pathogenic
Select item 1694653	GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	ACAD8, ADAMTS15 +28 more	Copy number loss	not provided	GPathogenic
Select item 979331	GRCh37/hg19 11q24.3-25(chr11:130128323-134938470)x1	NTM, IGSF9B +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 979329	GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1	ETS1, GLB1L3 +30 more	Copy number loss	not provided	GPathogenic
Select item 979328	GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1	TP53AIP1, FLI1 +41 more	Copy number loss	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815484	GRCh37/hg19 11q25(chr11:131327161-134938470)x3	NTM, VPS26B +12 more	Copy number gain	not provided	GUncertain significance
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 687995	GRCh37/hg19 11q25(chr11:130969272-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	not provided	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 625595	GRCh37/hg19 11q25(chr11:133325079-134157243)	ACAD8, GLB1L3 +8 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 625594	GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	ACAD8, ACRV1 +51 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 563879	GRCh37/hg19 11q24.3-25(chr11:129072293-134938470)x1	VPS26B, ACAD8 +23 more	Copy number loss	not provided	GPathogenic
Select item 563872	GRCh37/hg19 11q25(chr11:132187876-134938470)x1	B3GAT1, LINC02743 +12 more	Copy number loss	not provided	GPathogenic
Select item 563860	GRCh37/hg19 11q25(chr11:133313372-134110127)x3	IGSF9B, JAM3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 548978	GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1	FOXRED1, ST3GAL4 +39 more	Copy number loss	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443449	GRCh37/hg19 11q25(chr11:133328654-134177275)x3	ACAD8, GLB1L3 +8 more	Copy number gain	See cases	GLikely benign
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442904	GRCh37/hg19 11q25(chr11:133609389-134938470)x1	ACAD8, B3GAT1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 442788	GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1	ACAD8, ADAMTS15 +32 more	Copy number loss	See cases	GPathogenic
Select item 442570	GRCh37/hg19 11q24.3-25(chr11:129721809-134938470)x1	ACAD8, ADAMTS15 +22 more	Copy number loss	See cases	GPathogenic
Select item 442287	GRCh37/hg19 11q25(chr11:131426397-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 393778	GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	PATE2, PATE3 +104 more	Copy number loss	See cases	GPathogenic
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253565	GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1	NTM, NFRKB +32 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic
Select item 221845	GRCh37/hg19 11q25(chr11:133433026-133716356)x3	LINC02743, SPATA19	Copy number gain	Premature ovarian failure	GBenign
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 155588	GRCh38/hg38 11q25(chr11:132588975-135068576)x1	ACAD8, B3GAT1 +65 more	Copy number loss	See cases	GUncertain significance
Select item 155223	GRCh38/hg38 11q25(chr11:133169303-135068576)x1	ACAD8, B3GAT1 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 154559	GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1	ACAD8, B3GAT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 148509	GRCh38/hg38 11q25(chr11:131212028-135075271)x1	ACAD8, B3GAT1 +88 more	Copy number loss	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 144517	GRCh38/hg38 11q25(chr11:132936725-134998513)x1	LOC130007119, LOC130007120 +62 more	Copy number loss	See cases	GPathogenic

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