Related gene-specific medical variations for Gene (Select 29935) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155911	NM_013347.4(RPA4):c.719A>G (p.Asp240Gly)	DIAPH2, RPA4 (D240G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155910	NM_013347.4(RPA4):c.592C>T (p.Arg198Cys)	DIAPH2, RPA4 (R198C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155909	NM_013347.4(RPA4):c.541C>A (p.Pro181Thr)	DIAPH2, RPA4 (P181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155908	NM_013347.4(RPA4):c.100A>G (p.Ile34Val)	DIAPH2, RPA4 (I34V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2661023	NM_013347.4(RPA4):c.372T>C (p.Tyr124=)	DIAPH2, RPA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661022	NM_013347.4(RPA4):c.13G>A (p.Gly5Arg)	DIAPH2, RPA4 (G5R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2617703	NM_013347.4(RPA4):c.707A>G (p.Lys236Arg)	DIAPH2, RPA4 (K236R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610832	NM_013347.4(RPA4):c.391C>G (p.Leu131Val)	DIAPH2, RPA4 (L131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606690	NM_013347.4(RPA4):c.44C>A (p.Ala15Asp)	DIAPH2, RPA4 (A15D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592550	NM_013347.4(RPA4):c.593G>T (p.Arg198Leu)	DIAPH2, RPA4 (R198L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2528301	NM_013347.4(RPA4):c.674C>A (p.Ala225Asp)	DIAPH2, RPA4 (A225D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393564	NM_013347.4(RPA4):c.649G>A (p.Gly217Arg)	DIAPH2, RPA4 (G217R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378735	NM_013347.4(RPA4):c.325G>C (p.Gly109Arg)	DIAPH2, RPA4 (G109R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377655	NM_013347.4(RPA4):c.593G>A (p.Arg198His)	DIAPH2, RPA4 (R198H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360243	NM_013347.4(RPA4):c.26A>G (p.Tyr9Cys)	DIAPH2, RPA4 (Y9C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355422	NM_013347.4(RPA4):c.781G>A (p.Asp261Asn)	DIAPH2, RPA4 (D261N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344433	NM_013347.4(RPA4):c.568G>T (p.Ala190Ser)	DIAPH2, RPA4 (A190S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2280546	NM_013347.4(RPA4):c.518G>A (p.Arg173His)	DIAPH2, RPA4 (R173H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218409	NM_013347.4(RPA4):c.202G>A (p.Gly68Arg)	DIAPH2, RPA4 (G68R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209662	NM_013347.4(RPA4):c.88G>C (p.Ala30Pro)	DIAPH2, RPA4 (A30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 20