ClinVar for Gene (Select 79676) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302217	NM_001304833.2(OGFOD2):c.480C>G (p.Phe160Leu)	OGFOD2 (F100L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302216	NM_001304833.2(OGFOD2):c.1036G>T (p.Val346Leu)	OGFOD2 (V346L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302215	NM_001304833.2(OGFOD2):c.599C>T (p.Pro200Leu)	OGFOD2 (P140L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302214	NM_001304833.2(OGFOD2):c.854G>T (p.Arg285Leu)	OGFOD2 (R285L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302213	NM_001304833.2(OGFOD2):c.856G>C (p.Gly286Arg)	OGFOD2 (G226R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302212	NM_001304833.2(OGFOD2):c.731A>T (p.Asn244Ile)	OGFOD2 (N184I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3204126	NM_001304833.2(OGFOD2):c.1043C>T (p.Ala348Val)	OGFOD2 (A184V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204125	NM_001304833.2(OGFOD2):c.1018G>A (p.Glu340Lys)	OGFOD2 (E176K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204124	NM_001304833.2(OGFOD2):c.997G>A (p.Gly333Ser)	OGFOD2 (G273S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204123	NM_001304833.2(OGFOD2):c.973G>A (p.Asp325Asn)	OGFOD2 (D265N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204122	NM_001304833.2(OGFOD2):c.965G>A (p.Arg322His)	OGFOD2 (R262H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204121	NM_001304833.2(OGFOD2):c.877C>T (p.Arg293Trp)	OGFOD2 (R129W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204120	NM_001304833.2(OGFOD2):c.238G>A (p.Ala80Thr)	OGFOD2 (A80T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204118	NM_001304833.2(OGFOD2):c.731A>G (p.Asn244Ser)	OGFOD2 (N184S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204117	NM_001304833.2(OGFOD2):c.730A>G (p.Asn244Asp)	OGFOD2 (N80D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204116	NM_001304833.2(OGFOD2):c.550G>A (p.Gly184Arg)	OGFOD2 (G124R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204115	NM_001304833.2(OGFOD2):c.449G>A (p.Cys150Tyr)	OGFOD2 (C150Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2619745	NM_001304833.2(OGFOD2):c.512A>G (p.Asn171Ser)	OGFOD2 (N7S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617924	NM_001304833.2(OGFOD2):c.1010C>T (p.Thr337Ile)	OGFOD2 (T277I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601321	NM_001304833.2(OGFOD2):c.593T>C (p.Leu198Pro)	OGFOD2 (L198P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596324	NM_001304833.2(OGFOD2):c.490G>C (p.Asp164His)	OGFOD2 (D104H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591556	NM_001304833.2(OGFOD2):c.385C>T (p.Arg129Trp)	OGFOD2 (R129W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2548554	NM_001304833.2(OGFOD2):c.718G>A (p.Glu240Lys)	OGFOD2 (E240K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547426	NM_001304833.2(OGFOD2):c.272C>T (p.Pro91Leu)	OGFOD2 (P31L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546659	NM_001304833.2(OGFOD2):c.698G>A (p.Gly233Asp)	OGFOD2 (G233D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527958	NM_001304833.2(OGFOD2):c.743G>C (p.Gly248Ala)	OGFOD2 (G188A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527806	NM_001304833.2(OGFOD2):c.859G>A (p.Gly287Ser)	OGFOD2 (G287S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512200	NM_001304833.2(OGFOD2):c.763G>A (p.Ala255Thr)	OGFOD2 (A255T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463851	NM_001304833.2(OGFOD2):c.868C>T (p.His290Tyr)	OGFOD2 (H230Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457994	NM_001304833.2(OGFOD2):c.209G>A (p.Arg70Gln)	OGFOD2 (R10Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 2412548	NM_001304833.2(OGFOD2):c.1028C>T (p.Thr343Met)	OGFOD2 (T179M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410833	NM_001304833.2(OGFOD2):c.643G>A (p.Asp215Asn)	OGFOD2 (D215N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405237	NM_001304833.2(OGFOD2):c.211C>T (p.Arg71Trp)	OGFOD2 (R11W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373329	NM_001304833.2(OGFOD2):c.767T>C (p.Leu256Pro)	OGFOD2 (L256P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369353	NM_001304833.2(OGFOD2):c.586C>T (p.Arg196Cys)	OGFOD2 (R196C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350632	NM_001304833.2(OGFOD2):c.446T>C (p.Phe149Ser)	OGFOD2 (F149S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221122	NM_001304833.2(OGFOD2):c.938G>A (p.Arg313His)	OGFOD2 (R313H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215770	NM_001304833.2(OGFOD2):c.559G>A (p.Glu187Lys)	OGFOD2 (E127K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204948	NM_001304833.2(OGFOD2):c.406G>A (p.Glu136Lys)	OGFOD2 (E76K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 152933	GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3	ABCB9, ARL6IP4 +38 more	Copy number gain	See cases	GUncertain significance
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 59