ClinVar for Gene (Select 100129528) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244436	NC_000012.11:g.(?_132414268)_(133263901_?)del	DDX51, EP400 +7 more	Deletion	not provided	GPathogenic
Select item 2684688	GRCh37/hg19 12q24.33(chr12:132523434-133055234)x3	DDX51, EP400 +2 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 2643642	NC_000012.12:g.132473353G>A	MUC8	Single nucleotide variant	not provided	GLikely benign
Select item 2643641	NC_000012.12:g.132473326G>A	MUC8	Single nucleotide variant	not provided	GLikely benign
Select item 2643640	NC_000012.12:g.132473260T>C	MUC8	Single nucleotide variant	not provided	GLikely benign
Select item 2643639	NC_000012.12:g.132473152A>G	MUC8	Single nucleotide variant	not provided	GLikely benign
Select item 2643638	NC_000012.12:g.132472887C>G	MUC8	Single nucleotide variant	not provided	GLikely benign
Select item 2643637	NC_000012.12:g.132472799T>C	MUC8	Single nucleotide variant	not provided	GLikely benign
Select item 2500706	NC_000012.12:g.132237283_132491257dup	FBRSL1, GALNT9 +16 more	Duplication	not specified	GUncertain significance
Select item 2425542	NC_000012.11:g.(?_132414268)_(133263901_?)dup	DDX51, EP400 +7 more	Duplication	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 1527747	GRCh37/hg19 12q24.33(chr12:131657203-133227428)	DDX51, EP400 +10 more	Copy number loss	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 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 686464	GRCh37/hg19 12q24.33(chr12:132975658-133777902)x1	ANKLE2, CHFR +15 more	Copy number loss	not provided	GUncertain significance
Select item 638102	GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3	EP400, FBRSL1 +23 more	Copy number gain	See cases	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 443351	GRCh37/hg19 12q24.33(chr12:132441175-133071304)x3	DDX51, EP400 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442500	GRCh37/hg19 12q24.33(chr12:133046203-133777902)x3	ANKLE2, CHFR +15 more	Copy number gain	See cases	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 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 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 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 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 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

ClinVar

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Links from Gene

Items: 33