25762[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 2254326	NM_024544.3(MUL1):c.1036G>C (p.Val346Leu)	MUL1 (V346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473498	NM_024544.3(MUL1):c.1025C>T (p.Ala342Val)	MUL1 (A342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455548	NM_024544.3(MUL1):c.1012A>G (p.Ile338Val)	MUL1 (I338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356190	NM_024544.3(MUL1):c.985G>A (p.Ala329Thr)	MUL1 (A329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151083	NM_024544.3(MUL1):c.982C>T (p.Arg328Cys)	MUL1 (R328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151081	NM_024544.3(MUL1):c.970A>G (p.Thr324Ala)	MUL1 (T324A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749206	NM_024544.3(MUL1):c.957C>T (p.His319=)	MUL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3297018	NM_024544.3(MUL1):c.935G>A (p.Cys312Tyr)	MUL1 (C312Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151073	NM_024544.3(MUL1):c.827A>G (p.Gln276Arg)	MUL1 (Q276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308239	NM_024544.3(MUL1):c.805C>T (p.Arg269Cys)	MUL1 (R269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488130	NM_024544.3(MUL1):c.704C>T (p.Ser235Leu)	MUL1 (S235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542271	NM_024544.3(MUL1):c.701A>C (p.Glu234Ala)	MUL1 (E234A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480337	NM_024544.3(MUL1):c.701A>G (p.Glu234Gly)	MUL1 (E234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347140	NM_024544.3(MUL1):c.695G>A (p.Arg232Lys)	MUL1 (R232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618474	NM_024544.3(MUL1):c.652C>A (p.Gln218Lys)	MUL1 (Q218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791464	NM_024544.3(MUL1):c.636G>A (p.Pro212=)	MUL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2459983	NM_024544.3(MUL1):c.577G>A (p.Ala193Thr)	MUL1 (A193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735497	NM_024544.3(MUL1):c.555C>T (p.Thr185=)	MUL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2587933	NM_024544.3(MUL1):c.485C>T (p.Ser162Leu)	MUL1 (S162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290903	NM_024544.3(MUL1):c.409G>A (p.Val137Met)	MUL1 (V137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484671	NM_024544.3(MUL1):c.365A>G (p.Asn122Ser)	MUL1 (N122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151040	NM_024544.3(MUL1):c.231A>T (p.Glu77Asp)	MUL1 (E77D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151038	NM_024544.3(MUL1):c.191C>T (p.Pro64Leu)	MUL1 (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491879	NM_024544.3(MUL1):c.186C>G (p.Cys62Trp)	MUL1 (C62W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268756	NM_024544.3(MUL1):c.149A>G (p.Asp50Gly)	MUL1 (D50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458082	NM_024544.3(MUL1):c.121G>A (p.Gly41Arg)	MUL1 (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789911	NM_024544.3(MUL1):c.121-7T>A	MUL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3151079	NM_024544.3(MUL1):c.89G>C (p.Arg30Pro)	MUL1 (R30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268968	NM_024544.3(MUL1):c.56C>T (p.Ser19Phe)	MUL1 (S19F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719454	NM_024544.3(MUL1):c.29G>A (p.Cys10Tyr)	MUL1 (C10Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 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 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 47