ClinVar for Gene (Select 2967) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3103094	NM_001516.5(GTF2H3):c.887T>C (p.Val296Ala)	GTF2H3, LOC126861665 (V296A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103093	NM_001516.5(GTF2H3):c.787G>A (p.Glu263Lys)	GTF2H3, LOC126861665 (E220K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103092	NM_001516.5(GTF2H3):c.400G>A (p.Ala134Thr)	GTF2H3 (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103091	NM_001516.5(GTF2H3):c.251A>C (p.Asp84Ala)	GTF2H3 (D43A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3024579	GRCh37/hg19 12q24.31(chr12:124114716-124192779)x3	EIF2B1, GTF2H3 +1 more	Copy number gain	not provided	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 2607921	NM_001516.5(GTF2H3):c.697C>G (p.Pro233Ala)	GTF2H3, LOC126861665 (P190A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483887	NM_001516.5(GTF2H3):c.53A>G (p.Asn18Ser)	GTF2H3 (N18S)	Single nucleotide variant (missense variant +2 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 2334640	NM_001516.5(GTF2H3):c.20A>T (p.Glu7Val)	GTF2H3 (E7V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223173	NM_001516.5(GTF2H3):c.601G>C (p.Gly201Arg)	GTF2H3 (G160R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218040	NM_001516.5(GTF2H3):c.793G>T (p.Gly265Cys)	GTF2H3, LOC126861665 (G224C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208654	NM_001516.5(GTF2H3):c.439A>G (p.Met147Val)	GTF2H3 (M147V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527746	GRCh37/hg19 12q24.31(chr12:124097565-124278641)	ATP6V0A2, DDX55 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1412475	NC_000012.11:g.(?_124114696)_(124192260_?)dup	EIF2B1, GTF2H3 +1 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340887	GRCh37/hg19 12q24.31(chr12:123807132-124300075)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	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 1184290	NC_000012.12:g.123628460_123712468dup	ATP6V0A2, EIF2B1 +6 more	Duplication	not provided	GUncertain significance
Select item 1047868	GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341)	AACS, ATP6V0A2 +19 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 980994	GRCh37/hg19 12q24.31(chr12:123807132-124299781)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	GUncertain significance
Select item 778081	NM_001516.5(GTF2H3):c.3G>A (p.Met1Ile)	GTF2H3, LOC130009115 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 563936	GRCh37/hg19 12q24.31(chr12:124097565-124462296)x3	EIF2B1, TCTN2 +6 more	Copy number gain	not provided	GUncertain significance
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 394549	GRCh37/hg19 12q24.31(chr12:124113899-124192840)x3	EIF2B1, GTF2H3 +1 more	Copy number gain	See cases	GBenign
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 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 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
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 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 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

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Links from Gene

Items: 42