GMCL1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 3100457	NM_178439.5(GMCL1):c.38G>A (p.Arg13Lys)	GMCL1 (R13K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297625	NM_178439.5(GMCL1):c.142G>A (p.Gly48Ser)	GMCL1 (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100456	NM_178439.5(GMCL1):c.200A>G (p.Glu67Gly)	GMCL1 (E67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531349	NM_178439.5(GMCL1):c.231G>C (p.Glu77Asp)	GMCL1 (E77D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403770	NM_178439.5(GMCL1):c.566G>A (p.Cys189Tyr)	GMCL1 (C189Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390222	NM_178439.5(GMCL1):c.619A>G (p.Thr207Ala)	GMCL1 (T207A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771844	NM_178439.5(GMCL1):c.758+10T>C	GMCL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2554197	NM_178439.5(GMCL1):c.970G>A (p.Gly324Arg)	GMCL1 (G324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230164	NM_178439.5(GMCL1):c.1214G>A (p.Gly405Asp)	GMCL1 (G405D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100453	NM_178439.5(GMCL1):c.1229G>A (p.Arg410His)	GMCL1 (R410H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100454	NM_178439.5(GMCL1):c.1261C>G (p.Leu421Val)	GMCL1 (L421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256016	NM_178439.5(GMCL1):c.1318T>G (p.Cys440Gly)	GMCL1 (C440G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791856	NM_178439.5(GMCL1):c.1346G>A (p.Arg449Gln)	GMCL1 (R449Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2526162	NM_178439.5(GMCL1):c.1387A>G (p.Ser463Gly)	GMCL1 (S463G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545402	NM_178439.5(GMCL1):c.1402A>T (p.Ile468Leu)	GMCL1 (I468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100455	NM_178439.5(GMCL1):c.1424A>G (p.Tyr475Cys)	GMCL1 (Y475C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546120	NM_178439.5(GMCL1):c.1523A>G (p.Tyr508Cys)	GMCL1 (Y508C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	DGUOK, EMX1 +72 more	Duplication	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980977	GRCh37/hg19 2p13.3(chr2:69506803-70159981)x1	AAK1, ANXA4 +5 more	Copy number loss	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 221423	GRCh37/hg19 2p13.3(chr2:70043280-70315412)x3	ASPRV1, GMCL1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 32