MXD1[gene] - ClinVar

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Items: 23

	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 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 2254983	NM_002357.4(MXD1):c.122G>A (p.Arg41Lys)	MXD1 (R41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469116	NM_002357.4(MXD1):c.241G>C (p.Gly81Arg)	ASPRV1, MXD1 (G81R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530277	NM_002357.4(MXD1):c.380G>A (p.Arg127Gln)	ASPRV1, MXD1 (R127Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369081	NM_002357.4(MXD1):c.448G>A (p.Val150Ile)	ASPRV1, MXD1 (V150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152077	NM_002357.4(MXD1):c.461G>A (p.Arg154His)	ASPRV1, MXD1 (R144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366149	NM_002357.4(MXD1):c.544A>G (p.Ser182Gly)	ASPRV1, MXD1 (S181G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602345	NM_002357.4(MXD1):c.586G>A (p.Gly196Ser)	ASPRV1, MXD1 (G186S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518965	NM_002357.4(MXD1):c.611C>T (p.Thr204Ile)	ASPRV1, MXD1 (T194I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333742	NM_002357.4(MXD1):c.630G>T (p.Lys210Asn)	ASPRV1, MXD1 (K200N +2 more)	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	AAK1, ACTG2 +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: 23