ClinVar for Gene (Select 79927) - ClinVar

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Links from Gene

Items: 20

	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 2622639	NM_024869.3(FAM110D):c.604C>G (p.Pro202Ala)	FAM110D (P202A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611420	NM_024869.3(FAM110D):c.35G>C (p.Gly12Ala)	FAM110D (G12A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605531	NM_024869.3(FAM110D):c.640A>C (p.Ser214Arg)	FAM110D (S214R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490292	NM_024869.3(FAM110D):c.272G>A (p.Arg91Gln)	FAM110D (R91Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479661	NM_024869.3(FAM110D):c.737T>C (p.Val246Ala)	FAM110D (V246A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476911	NM_024869.3(FAM110D):c.616G>C (p.Gly206Arg)	FAM110D (G206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474656	NM_024869.3(FAM110D):c.100G>C (p.Val34Leu)	FAM110D (V34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462264	NM_024869.3(FAM110D):c.590C>G (p.Ala197Gly)	FAM110D (A197G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2346685	NM_024869.3(FAM110D):c.200C>T (p.Pro67Leu)	FAM110D (P67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323689	NM_024869.3(FAM110D):c.725C>G (p.Pro242Arg)	FAM110D (P242R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287328	NM_024869.3(FAM110D):c.725C>T (p.Pro242Leu)	FAM110D (P242L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255888	NM_024869.3(FAM110D):c.547C>G (p.Arg183Gly)	FAM110D (R183G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
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

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Links from Gene

Items: 20