30833[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 758212	NM_005851.5(CDK2AP2):c.369C>T (p.Asn123=)	CDK2AP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2533526	NM_005851.5(CDK2AP2):c.247G>C (p.Glu83Gln)	CDK2AP2 (E28Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265459	NM_005851.5(CDK2AP2):c.184A>C (p.Met62Leu)	CDK2AP2 (M62L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770402	NM_005851.5(CDK2AP2):c.180G>A (p.Gln60=)	CDK2AP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2340572	NM_005851.5(CDK2AP2):c.176T>A (p.Val59Glu)	CDK2AP2 (V4E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520374	NM_005851.5(CDK2AP2):c.173A>G (p.Tyr58Cys)	CDK2AP2 (Y3C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551029	NM_005851.5(CDK2AP2):c.167T>C (p.Met56Thr)	CDK2AP2 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 735926	NM_005851.5(CDK2AP2):c.133A>C (p.Arg45=)	CDK2AP2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563826	GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1	TBC1D10C, GPR152 +12 more	Copy number loss	not provided	GUncertain significance
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 394271	GRCh37/hg19 11q13.2(chr11:67259243-67274585)x3	CDK2AP2, PITPNM1	Copy number gain	See cases	GBenign
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 27