DDX27[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 150781	GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3	ARFGEF2, CSE1L +44 more	Copy number gain	See cases	GUncertain significance
Select item 146041	GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3	DDX27, KCNB1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 1184395	NC_000020.11:g.49212886_49410642dup	DDX27, KCNB1 +12 more	Duplication	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 3080975	NM_017895.7(DDX27):c.50G>T (p.Gly17Val)	DDX27 (G17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080976	NM_017895.8(DDX27):c.-33G>A	DDX27	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3271286	NM_017895.8(DDX27):c.-32T>C	DDX27	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2491430	NM_017895.8(DDX27):c.13C>T (p.Leu5Phe)	DDX27 (L5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384338	NM_017895.8(DDX27):c.21A>C (p.Leu7Phe)	DDX27 (L7F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2608818	NM_017895.8(DDX27):c.50T>A (p.Val17Glu)	DDX27 (V17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396701	NM_017895.8(DDX27):c.100A>G (p.Ile34Val)	DDX27 (I34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372507	NM_017895.8(DDX27):c.387G>T (p.Glu129Asp)	DDX27 (E129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271290	NM_017895.8(DDX27):c.424A>G (p.Thr142Ala)	DDX27 (T142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304689	NM_017895.8(DDX27):c.431A>G (p.Tyr144Cys)	DDX27 (Y144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460807	NM_017895.8(DDX27):c.439G>A (p.Ala147Thr)	DDX27 (A147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719212	NM_017895.8(DDX27):c.465A>G (p.Ala155=)	DDX27	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2204098	NM_017895.8(DDX27):c.491A>G (p.Lys164Arg)	DDX27 (K164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710156	NM_017895.8(DDX27):c.514G>A (p.Glu172Lys)	DDX27 (E203K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2652387	NM_017895.8(DDX27):c.570G>A (p.Gln190=)	DDX27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604836	NM_017895.8(DDX27):c.631A>G (p.Thr211Ala)	DDX27 (T211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777581	NM_017895.8(DDX27):c.717C>T (p.Ala239=)	DDX27	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2356222	NM_017895.8(DDX27):c.766G>A (p.Ala256Thr)	DDX27 (A256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080977	NM_017895.8(DDX27):c.778C>T (p.Arg260Cys)	DDX27 (R260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217346	NM_017895.8(DDX27):c.800C>T (p.Thr267Ile)	DDX27 (T267I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271291	NM_017895.8(DDX27):c.882C>T (p.Gly294=)	DDX27	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3080966	NM_017895.8(DDX27):c.923C>T (p.Ala308Val)	DDX27 (A308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269005	NM_017895.8(DDX27):c.930C>G (p.Asp310Glu)	DDX27 (D310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461613	NM_017895.8(DDX27):c.1094G>A (p.Arg365His)	DDX27 (R365H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271289	NM_017895.8(DDX27):c.1364T>C (p.Met455Thr)	DDX27 (M455T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458525	NM_017895.8(DDX27):c.1426C>T (p.Arg476Trp)	DDX27 (R476W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621800	NM_017895.8(DDX27):c.1459G>A (p.Val487Met)	DDX27 (V487M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617669	NM_017895.8(DDX27):c.1499G>A (p.Gly500Glu)	DDX27 (G531E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470614	NM_017895.8(DDX27):c.1508C>T (p.Thr503Met)	DDX27 (T503M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080968	NM_017895.8(DDX27):c.1621C>T (p.Arg541Trp)	DDX27 (R541W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483195	NM_017895.8(DDX27):c.1638G>T (p.Glu546Asp)	DDX27 (E546D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080969	NM_017895.8(DDX27):c.1658C>T (p.Ala553Val)	DDX27 (A553V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080970	NM_017895.8(DDX27):c.1682C>T (p.Pro561Leu)	DDX27 (P561L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080971	NM_017895.8(DDX27):c.1705C>T (p.Arg569Trp)	DDX27 (R569W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256861	NM_017895.8(DDX27):c.1799A>C (p.Asn600Thr)	DDX27 (N600T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080973	NM_017895.8(DDX27):c.1852G>A (p.Glu618Lys)	DDX27 (E618K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688265	NM_017895.8(DDX27):c.1898-140G>A	DDX27	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2265112	NM_017895.8(DDX27):c.1906G>A (p.Ala636Thr)	DDX27 (A636T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396776	NM_017895.8(DDX27):c.2113C>T (p.Pro705Ser)	DDX27 (P705S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329858	NM_017895.8(DDX27):c.2161C>T (p.Leu721Phe)	DDX27 (L752F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080974	NM_017895.8(DDX27):c.2228A>C (p.Gln743Pro)	DDX27 (Q743P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541833	NM_017895.8(DDX27):c.2251C>G (p.Arg751Gly)	DDX27 (R751G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271287	NM_017895.8(DDX27):c.2254G>A (p.Gly752Arg)	DDX27 (G752R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340859	GRCh37/hg19 20q13.13(chr20:46721299-47873110)x3	ARFGEF2, CSE1L +4 more	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 830763	NC_000020.11:g.(?_48921870)_(49482500_?)del	ARFGEF2, CSE1L +4 more	Deletion	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 442309	GRCh37/hg19 20q13.13(chr20:47427610-48085774)x3	ARFGEF2, CSE1L +5 more	Copy number gain	See cases	GUncertain significance
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

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Items: 58