ClinVar for Gene (Select 5511) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2611238	NM_014110.5(PPP1R8):c.29G>A (p.Ser10Asn)	PPP1R8 (S10N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493877	NM_014110.5(PPP1R8):c.307C>T (p.Pro103Ser)	PPP1R8 (P103S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2396920	NM_014110.5(PPP1R8):c.705G>T (p.Lys235Asn)	PPP1R8 (K11N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375962	NM_014110.5(PPP1R8):c.746C>T (p.Ser249Leu)	PPP1R8 (S107L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367434	NM_014110.5(PPP1R8):c.793G>A (p.Gly265Arg)	PPP1R8 (G265R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360368	NM_014110.5(PPP1R8):c.710G>A (p.Arg237His)	PPP1R8 (R13H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258208	NM_014110.5(PPP1R8):c.973G>C (p.Glu325Gln)	PPP1R8 (E101Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205468	NM_014110.5(PPP1R8):c.841A>T (p.Ile281Phe)	PPP1R8 (I139F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 980386	GRCh37/hg19 1p35.3(chr1:28123257-28189681)x1	STX12, PPP1R8	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59930	GRCh38/hg38 1p35.3(chr1:27601122-27889441)x1	AHDC1, FAM76A +32 more	Copy number loss	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic