MCL1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 3124285	NM_021960.5(MCL1):c.1038A>G (p.Ala346=)	MCL1 (I264V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 623464	NM_021960.5(MCL1):c.1031G>T (p.Gly344Val)	MCL1 (G191V +2 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 3293645	NM_021960.5(MCL1):c.1002T>C (p.Ala334=)	MCL1 (F252L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2595103	NM_021960.5(MCL1):c.960T>C (p.His320=)	MCL1 (C238R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2263144	NM_021960.5(MCL1):c.929G>A (p.Arg310Lys)	LOC126805857, MCL1 (R310K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770854	NM_021960.5(MCL1):c.732A>G (p.Lys244=)	LOC126805857, MCL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716276	NM_021960.5(MCL1):c.688+9G>T	LOC126805857, MCL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3124286	NM_021960.5(MCL1):c.673G>C (p.Glu225Gln)	LOC126805857, MCL1 (E225Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409577	NM_021960.5(MCL1):c.431T>C (p.Leu144Pro)	LOC126805857, MCL1 (L144P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788764	NM_021960.5(MCL1):c.358A>G (p.Met120Val)	LOC126805857, MCL1 (M120V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2239940	NM_021960.5(MCL1):c.322C>G (p.Leu108Val)	LOC126805857, MCL1 (L108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210440	NM_021960.5(MCL1):c.307C>T (p.Arg103Cys)	LOC126805857, MCL1 (R103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322091	NM_021960.5(MCL1):c.304A>C (p.Thr102Pro)	LOC126805857, MCL1 (T102P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239465	NM_021960.5(MCL1):c.133C>T (p.Arg45Trp)	LOC126805857, MCL1 (R45W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544562	NM_021960.5(MCL1):c.131C>T (p.Ala44Val)	LOC126805857, MCL1 (A44V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 221418	GRCh37/hg19 1q21.3(chr1:150531540-150679158)x3	HORMAD1, MCL1 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 26