ClinVar for Gene (Select 400746) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183405	NM_001010980.5(NCMAP):c.32C>A (p.Thr11Asn)	NCMAP (T11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183400	NM_001010980.5(NCMAP):c.242G>A (p.Ser81Asn)	NCMAP (S81N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183397	NM_001010980.5(NCMAP):c.209A>G (p.Lys70Arg)	NCMAP (K70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183394	NM_001010980.5(NCMAP):c.11C>T (p.Ala4Val)	NCMAP (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685377	GRCh37/hg19 1p36.11(chr1:24680971-25029622)x1	GRHL3, NCMAP +4 more	Copy number loss	not provided	GUncertain significance
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 2355140	NM_001010980.5(NCMAP):c.247G>A (p.Gly83Ser)	NCMAP (G83S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 929347	GRCh37/hg19 1p36.11(chr1:24394811-25148686)x3	CLIC4, GRHL3 +8 more	Copy number gain	See cases	GUncertain significance
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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic