Related gene-specific medical variations for Gene (Select 1730) - ClinVar

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Links from Gene

Items: 40

	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 3062522	GRCh37/hg19 Xq21.33(chrX:96335951-96714568)	DIAPH2	Copy number gain	not specified	GUncertain significance
Select item 3062517	GRCh37/hg19 Xq21.33(chrX:96627233-97219759)	DIAPH2	Copy number gain	not specified	GUncertain significance
Select item 2685757	GRCh37/hg19 Xq21.33(chrX:96434708-96795016)x2	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 2685001	GRCh37/hg19 Xq21.33(chrX:96398956-97034983)x3	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 2661026	NC_000023.11:g.97847553C>T	DIAPH2	Single nucleotide variant	not provided	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 2627063	NM_006729.5(DIAPH2):c.2701G>A (p.Val901Ile)	DIAPH2 (V901I)	Single nucleotide variant (missense variant)	Premature ovarian failure 2A	GUncertain significance
Select item 2627053	NM_006729.5(DIAPH2):c.1586A>C (p.Glu529Ala)	DIAPH2 (E529A)	Single nucleotide variant (missense variant)	Premature ovarian failure 2A	GUncertain significance
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
Select item 979835	GRCh37/hg19 Xq21.33(chrX:95403686-96064475)x3	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 816372	GRCh37/hg19 Xq21.33(chrX:96771597-96832861)x1	DIAPH2	Copy number loss	not provided	GUncertain significance
Select item 816371	GRCh37/hg19 Xq21.33(chrX:96266915-96556797)x3	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 689306	GRCh37/hg19 Xq21.33(chrX:96547513-96875895)x2	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 689021	GRCh37/hg19 Xq21.33(chrX:96305911-96349336)x1	DIAPH2	Copy number loss	not provided	GUncertain significance
Select item 685419	GRCh37/hg19 Xq21.33(chrX:95699276-96113315)x2	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 564873	GRCh37/hg19 Xq21.33(chrX:96763921-96991879)x0	DIAPH2	Copy number loss	not provided	GUncertain significance
Select item 564872	GRCh37/hg19 Xq21.33(chrX:96705988-96932550)x2	DIAPH2	Copy number gain	not provided	GLikely benign
Select item 443080	GRCh37/hg19 Xq21.33(chrX:96608078-97520248)x3	DIAPH2	Copy number gain	See cases	GLikely benign
Select item 394172	GRCh37/hg19 Xq21.33(chrX:96606285-97417849)x3	DIAPH2	Copy number gain	See cases	GLikely benign
Select item 148776	GRCh38/hg38 Xq21.33(chrX:95975241-96745547)x3	DIAPH2	Copy number gain	See cases	GUncertain significance
Select item 147474	GRCh38/hg38 Xq21.33(chrX:96032620-96710658)x2	DIAPH2	Copy number gain	See cases	GUncertain significance
Select item 11622	t(X;12)(q21;p13)	DIAPH2	Translocation	Premature ovarian failure 2A	GPathogenic

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Items: 40