ClinVar for Gene (Select 1655) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2612274	NM_004396.5(DDX5):c.1342A>G (p.Asn448Asp)	DDX5 (N448D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495797	NM_004396.5(DDX5):c.326T>C (p.Ile109Thr)	DDX5 (I109T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407363	NM_004396.5(DDX5):c.308C>T (p.Ala103Val)	DDX5 (A103V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402965	NM_004396.5(DDX5):c.966C>G (p.Asp322Glu)	DDX5 (D322E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382454	NM_004396.5(DDX5):c.1625A>G (p.Asn542Ser)	DDX5 (N542S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317084	NM_004396.5(DDX5):c.956T>C (p.Val319Ala)	DDX5 (V319A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298951	NM_004396.5(DDX5):c.1055G>A (p.Arg352Lys)	DDX5 (R352K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295001	NM_004396.5(DDX5):c.514G>A (p.Val172Met)	DDX5 (V172M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291108	NM_004396.5(DDX5):c.1457G>A (p.Arg486Lys)	DDX5 (R486K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285365	NM_004396.5(DDX5):c.1556C>T (p.Ser519Phe)	DDX5 (S519F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266372	NM_004396.5(DDX5):c.932A>G (p.His311Arg)	DDX5 (H311R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1174101	NM_004396.5(DDX5):c.839C>T (p.Ala280Val)	DDX5 (A280V)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 734021	NM_004396.5(DDX5):c.804A>G (p.Gln268=)	DDX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 477396	NC_000017.10:g.(?_62018111)_(62987152_?)dup	CEP95, DDX5 +10 more	Duplication	Hyperkalemic periodic paralysis	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 146504	GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1	CEP95, DDX5 +22 more	Copy number loss	See cases	GUncertain significance
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27