ClinVar for Gene (Select 79009) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271351	NM_024045.2(DDX50):c.650T>C (p.Leu217Ser)	DDX50 (L217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271350	NM_024045.2(DDX50):c.71A>T (p.Lys24Met)	DDX50, LOC130003957 (K24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271349	NM_024045.2(DDX50):c.68A>C (p.Gln23Pro)	DDX50, LOC130003957 (Q23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271347	NM_024045.2(DDX50):c.2171G>C (p.Arg724Thr)	DDX50 (R724T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271346	NM_024045.2(DDX50):c.1844A>C (p.Asn615Thr)	DDX50 (N615T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081081	NM_024045.2(DDX50):c.873A>T (p.Glu291Asp)	DDX50 (E291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081080	NM_024045.2(DDX50):c.73A>G (p.Lys25Glu)	DDX50, LOC130003957 (K25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081079	NM_024045.2(DDX50):c.628C>T (p.Arg210Cys)	DDX50 (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081078	NM_024045.2(DDX50):c.544C>T (p.Arg182Trp)	DDX50 (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081077	NM_024045.2(DDX50):c.350C>G (p.Ser117Cys)	DDX50 (S117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081076	NM_024045.2(DDX50):c.229G>C (p.Gly77Arg)	DDX50 (G77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081075	NM_024045.2(DDX50):c.2108G>A (p.Arg703Lys)	DDX50 (R703K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081074	NM_024045.2(DDX50):c.2095G>A (p.Gly699Ser)	DDX50 (G699S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081073	NM_024045.2(DDX50):c.2087G>T (p.Arg696Leu)	DDX50 (R696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081072	NM_024045.2(DDX50):c.197T>C (p.Met66Thr)	DDX50 (M66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081071	NM_024045.2(DDX50):c.165C>G (p.Asp55Glu)	DDX50 (D55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2607281	NM_024045.2(DDX50):c.1883G>A (p.Gly628Glu)	DDX50 (G628E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607218	NM_024045.2(DDX50):c.854G>A (p.Arg285Gln)	DDX50 (R285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2560230	NM_024045.2(DDX50):c.47C>T (p.Pro16Leu)	DDX50, LOC130003957 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556009	NM_024045.2(DDX50):c.1200G>T (p.Lys400Asn)	DDX50 (K400N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554335	NM_024045.2(DDX50):c.1883G>C (p.Gly628Ala)	DDX50 (G628A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545202	NM_024045.2(DDX50):c.700A>G (p.Ile234Val)	DDX50 (I234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538561	NM_024045.2(DDX50):c.413C>A (p.Ala138Asp)	DDX50 (A138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530201	NM_024045.2(DDX50):c.1528A>G (p.Thr510Ala)	DDX50 (T510A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527877	NM_024045.2(DDX50):c.1415A>G (p.Tyr472Cys)	DDX50 (Y472C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512993	NM_024045.2(DDX50):c.2002T>G (p.Tyr668Asp)	DDX50 (Y668D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512751	NM_024045.2(DDX50):c.1558A>G (p.Met520Val)	DDX50 (M520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496311	NM_024045.2(DDX50):c.532A>G (p.Ile178Val)	DDX50 (I178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454549	NM_024045.2(DDX50):c.55G>A (p.Glu19Lys)	DDX50, LOC130003957 (E19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399039	NM_024045.2(DDX50):c.20G>C (p.Trp7Ser)	DDX50, LOC130003957 (W7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398470	NM_024045.2(DDX50):c.413C>G (p.Ala138Gly)	DDX50 (A138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397220	NM_024045.2(DDX50):c.632C>T (p.Ser211Leu)	DDX50 (S211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379278	NM_024045.2(DDX50):c.658A>G (p.Thr220Ala)	DDX50 (T220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367561	NM_024045.2(DDX50):c.2053G>C (p.Gly685Arg)	DDX50 (G685R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363864	NM_024045.2(DDX50):c.956A>G (p.Asn319Ser)	DDX50 (N319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346682	NM_024045.2(DDX50):c.2087G>A (p.Arg696Gln)	DDX50 (R696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337027	NM_024045.2(DDX50):c.1993G>A (p.Glu665Lys)	DDX50 (E665K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320074	NM_024045.2(DDX50):c.407A>G (p.Glu136Gly)	DDX50 (E136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312598	NM_024045.2(DDX50):c.2122G>A (p.Gly708Arg)	DDX50 (G708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311782	NM_024045.2(DDX50):c.302T>C (p.Ile101Thr)	DDX50 (I101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311390	NM_024045.2(DDX50):c.1174G>T (p.Ala392Ser)	DDX50 (A392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260058	NM_024045.2(DDX50):c.164A>C (p.Asp55Ala)	DDX50 (D55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231055	NM_024045.2(DDX50):c.2188G>A (p.Gly730Arg)	DDX50 (G730R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226533	NM_024045.2(DDX50):c.111C>A (p.His37Gln)	DDX50 (H37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216396	NM_024045.2(DDX50):c.2057G>A (p.Arg686Gln)	DDX50 (R686Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 717161	NM_024045.2(DDX50):c.1975G>A (p.Ala659Thr)	DDX50 (A659T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710605	NM_024045.2(DDX50):c.717C>T (p.Ser239=)	DDX50	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	HERC4, HNRNPH3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393854	GRCh37/hg19 10q21.3-22.1(chr10:70525750-70775715)x3	CCAR1, DDX21 +3 more	Copy number gain	See cases	GUncertain significance
Select item 219327	NM_024045.2(DDX50):c.122C>T (p.Ser41Leu)	DDX50 (S41L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 145589	GRCh38/hg38 10q21.3-22.1(chr10:68543815-68977524)x1	CCAR1, DDX21 +29 more	Copy number loss	See cases	GUncertain significance
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 67