CDK2AP1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 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
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 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	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 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	CDK2AP1, KMT5A +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2282868	NM_004642.4(CDK2AP1):c.331C>T (p.Arg111Trp)	CDK2AP1 (R111W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776771	NM_004642.4(CDK2AP1):c.189C>T (p.Tyr63=)	CDK2AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 782568	NM_004642.4(CDK2AP1):c.171G>A (p.Gln57=)	CDK2AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2613656	NM_004642.4(CDK2AP1):c.134C>T (p.Pro45Leu)	CDK2AP1 (P17L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257562	NM_004642.4(CDK2AP1):c.127G>A (p.Gly43Arg)	CDK2AP1 (G15R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265458	NM_004642.4(CDK2AP1):c.62G>A (p.Ser21Asn)	CDK2AP1 (S21N)	Single nucleotide variant (5 prime UTR variant +2 more)	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 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3063249	GRCh37/hg19 12q24.31(chr12:123586597-124015352)x3	CDK2AP1, KMT5A +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063242	GRCh37/hg19 12q24.31(chr12:123651965-124044014)x3	CDK2AP1, KMT5A +6 more	Copy number gain	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 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	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 689203	GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3	CDK2AP1, KMT5A +5 more	Copy number gain	not provided	GUncertain significance
Select item 689202	GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3	CDK2AP1, KMT5A +5 more	Copy number gain	not provided	GUncertain significance
Select item 689201	GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3	CDK2AP1, KMT5A +5 more	Copy number gain	not provided	GUncertain significance
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 686311	GRCh37/hg19 12q24.31(chr12:123674527-123803851)x3	CDK2AP1, MPHOSPH9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563927	GRCh37/hg19 12q24.31(chr12:123708136-123981696)x3	SBNO1, SNRNP35 +5 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 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 393745	GRCh37/hg19 12q24.31(chr12:123651149-123944378)x3	CDK2AP1, KMT5A +5 more	Copy number gain	See cases	GUncertain significance
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 226223	GRCh37/hg19 12q24.31(chr12:123596909-123989546)	SBNO1, MTRFR +6 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 37