ClinVar for Gene (Select 6118) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315115	NM_002946.5(RPA2):c.35C>T (p.Ser12Phe)	RPA2 (S20F +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3155905	NM_002946.5(RPA2):c.786C>A (p.Asp262Glu)	RPA2 (D266E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155904	NM_002946.5(RPA2):c.685G>A (p.Asp229Asn)	RPA2 (D229N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155903	NM_002946.5(RPA2):c.652G>T (p.Ala218Ser)	RPA2 (A122S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155902	NM_002946.5(RPA2):c.353C>T (p.Thr118Ile)	RPA2 (T122I +3 more)	Single nucleotide variant (missense variant)	not specified	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 2597018	NM_002946.5(RPA2):c.547A>G (p.Ile183Val)	RPA2 (I183V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537769	NM_002946.5(RPA2):c.115T>C (p.Ser39Pro)	RPA2 (S39P +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2528299	NM_002946.5(RPA2):c.686A>G (p.Asp229Gly)	RPA2 (D233G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379432	NM_002946.5(RPA2):c.176T>G (p.Leu59Trp)	RPA2 (L63W +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2368797	NM_002946.5(RPA2):c.491A>G (p.Asn164Ser)	RPA2 (N164S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328131	NM_002946.5(RPA2):c.425T>G (p.Val142Gly)	RPA2 (V150G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265829	NM_002946.5(RPA2):c.805G>A (p.Ala269Thr)	RPA2 (A173T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262412	NM_002946.5(RPA2):c.38C>T (p.Ser13Leu)	RPA2 (S13L +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	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 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
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20