26001[HGNC] - ClinVar

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Items: 46

	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 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 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 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 152815	GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3	AKR7A2, AKR7A3 +39 more	Copy number gain	See cases	GLikely benign
Select item 152221	GRCh38/hg38 1p36.13(chr1:19169253-19415934)x1	AKR7A2, AKR7A3 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3320088	NM_001040125.2(SLC66A1):c.43C>G (p.Pro15Ala)	SLC66A1 (P15A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464263	NM_001040125.2(SLC66A1):c.49G>A (p.Gly17Ser)	SLC66A1 (G17S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533299	NM_001040125.2(SLC66A1):c.175A>G (p.Lys59Glu)	SLC66A1 (K59E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165310	NM_001040125.2(SLC66A1):c.199G>A (p.Asp67Asn)	SLC66A1 (D2N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2622318	NM_001040125.2(SLC66A1):c.248C>T (p.Ser83Phe)	SLC66A1 (S83F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518023	NM_001040125.2(SLC66A1):c.326A>C (p.Asp109Ala)	SLC66A1 (D44A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557387	NM_001040125.2(SLC66A1):c.371G>A (p.Arg124His)	SLC66A1 (R59H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165311	NM_001040125.2(SLC66A1):c.403G>T (p.Val135Leu)	SLC66A1 (V24L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320085	NM_001040125.2(SLC66A1):c.410T>C (p.Leu137Ser)	SLC66A1 (L72S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165312	NM_001040125.2(SLC66A1):c.418A>G (p.Met140Val)	SLC66A1 (M29V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165313	NM_001040125.2(SLC66A1):c.428C>T (p.Ala143Val)	SLC66A1 (A143V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3165314	NM_001040125.2(SLC66A1):c.470C>T (p.Ala157Val)	SLC66A1 (A46V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607961	NM_001040125.2(SLC66A1):c.493C>T (p.Arg165Trp)	SLC66A1 (R100W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320086	NM_001040125.2(SLC66A1):c.497C>T (p.Ala166Val)	SLC66A1 (A166V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619371	NM_001040125.2(SLC66A1):c.586C>G (p.Leu196Val)	SLC66A1 (L85V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065013	NM_001040125.2(SLC66A1):c.618_618+11del	SLC66A1	Deletion (splice donor variant)	Nephropathic cystinosis	GUncertain significance
Select item 3320087	NM_001040125.2(SLC66A1):c.661G>A (p.Ala221Thr)	SLC66A1 (A221T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165315	NM_001040125.2(SLC66A1):c.662C>T (p.Ala221Val)	SLC66A1 (A110V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552421	NM_001040125.2(SLC66A1):c.695T>C (p.Leu232Pro)	SLC66A1 (L167P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512824	NM_001040125.2(SLC66A1):c.718G>A (p.Glu240Lys)	SLC66A1 (E129K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165316	NM_001040125.2(SLC66A1):c.733G>A (p.Glu245Lys)	SLC66A1 (E134K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320089	NM_001040125.2(SLC66A1):c.832C>T (p.Arg278Cys)	SLC66A1 (R167C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165317	NM_001040125.2(SLC66A1):c.833G>A (p.Arg278His)	SLC66A1 (R213H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
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 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
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 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
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: 46