Related gene-specific medical variations for Gene (Select 168400) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271367	NM_182699.4(DDX53):c.1376A>G (p.Glu459Gly)	DDX53, PTCHD1-AS (E459G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271365	NM_182699.4(DDX53):c.74G>T (p.Arg25Met)	DDX53, PTCHD1-AS (R25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271364	NM_182699.4(DDX53):c.423T>A (p.Asn141Lys)	DDX53, PTCHD1-AS (N141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271363	NM_182699.4(DDX53):c.1702G>A (p.Val568Ile)	DDX53, PTCHD1-AS (V568I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3250881	NM_182699.4(DDX53):c.1869A>C (p.Arg623Ser)	DDX53, PTCHD1-AS (R623S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3081121	NM_182699.4(DDX53):c.998G>A (p.Arg333Lys)	DDX53, PTCHD1-AS (R333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081120	NM_182699.4(DDX53):c.564G>A (p.Met188Ile)	DDX53, PTCHD1-AS (M188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081119	NM_182699.4(DDX53):c.287T>C (p.Phe96Ser)	DDX53, PTCHD1-AS (F96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081118	NM_182699.4(DDX53):c.1604A>G (p.Asp535Gly)	DDX53, PTCHD1-AS (D535G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081117	NM_182699.4(DDX53):c.1392G>A (p.Met464Ile)	DDX53, PTCHD1-AS (M464I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058954	NM_182699.4(DDX53):c.1074C>T (p.Asp358=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GBenign
Select item 3055488	NM_182699.4(DDX53):c.1143G>T (p.Met381Ile)	DDX53, PTCHD1-AS (M381I)	Single nucleotide variant (missense variant)	DDX53-related disorder	GBenign
Select item 3055441	NM_182699.4(DDX53):c.1172G>T (p.Arg391Met)	DDX53, PTCHD1-AS (R391M)	Single nucleotide variant (missense variant)	DDX53-related disorder	GBenign
Select item 3055405	NM_182699.4(DDX53):c.185T>C (p.Val62Ala)	DDX53, PTCHD1-AS (V62A)	Single nucleotide variant (missense variant)	DDX53-related disorder	GBenign
Select item 3051977	NM_182699.4(DDX53):c.1117T>C (p.Leu373=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GLikely benign
Select item 3048728	NM_182699.4(DDX53):c.640C>T (p.Arg214Cys)	DDX53, PTCHD1-AS (R214C)	Single nucleotide variant (missense variant)	DDX53-related disorder	GLikely benign
Select item 3048048	NM_182699.4(DDX53):c.1245T>C (p.Arg415=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GBenign
Select item 3042881	NM_182699.4(DDX53):c.1599T>C (p.Leu533=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GBenign
Select item 3035162	NM_182699.4(DDX53):c.1044C>T (p.Ile348=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GLikely benign
Select item 3029126	NM_182699.4(DDX53):c.1144C>A (p.Leu382Met)	PTCHD1-AS, DDX53 (L382M)	Single nucleotide variant (missense variant)	DDX53-related disorder	GLikely benign
Select item 2688921	NM_182699.4(DDX53):c.259G>T (p.Gly87Trp)	DDX53, PTCHD1-AS (G87W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685697	GRCh37/hg19 Xp22.11(chrX:22994808-23069061)x1	DDX53	Copy number loss	not provided	GUncertain significance
Select item 2685696	GRCh37/hg19 Xp22.11(chrX:22920220-23351620)x1	DDX53	Copy number loss	not provided	GUncertain significance
Select item 2685695	GRCh37/hg19 Xp22.11(chrX:22863469-23034538)x1	DDX53	Copy number loss	not provided	GUncertain significance
Select item 2685665	GRCh37/hg19 Xp22.11(chrX:22789510-23022222)x0	DDX53	Copy number loss	not provided	GUncertain significance
Select item 2685554	GRCh37/hg19 Xp22.11(chrX:22629139-23254705)x0	DDX53	Copy number loss	not provided	GUncertain significance
Select item 2660164	NM_182699.4(DDX53):c.1059T>C (p.Pro353=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660163	NM_182699.4(DDX53):c.813G>A (p.Gly271=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660162	NM_182699.4(DDX53):c.207A>C (p.Ser69=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660161	NM_182699.4(DDX53):c.13G>A (p.Ala5Thr)	DDX53, PTCHD1-AS (A5T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2623275	NM_182699.4(DDX53):c.260G>C (p.Gly87Ala)	DDX53, PTCHD1-AS (G87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588910	NM_182699.4(DDX53):c.217G>C (p.Asp73His)	DDX53, PTCHD1-AS (D73H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2549622	NM_182699.4(DDX53):c.1355A>G (p.Glu452Gly)	DDX53, PTCHD1-AS (E452G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529468	NM_182699.4(DDX53):c.1511G>C (p.Ser504Thr)	DDX53, PTCHD1-AS (S504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516544	NM_182699.4(DDX53):c.80G>A (p.Ser27Asn)	DDX53, PTCHD1-AS (S27N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2514719	NM_182699.4(DDX53):c.787A>G (p.Ile263Val)	DDX53, PTCHD1-AS (I263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457276	NM_182699.4(DDX53):c.649C>T (p.Pro217Ser)	DDX53, PTCHD1-AS (P217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408926	NM_182699.4(DDX53):c.1157T>C (p.Phe386Ser)	DDX53, PTCHD1-AS (F386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400300	NM_182699.4(DDX53):c.1648G>A (p.Val550Ile)	DDX53, PTCHD1-AS (V550I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387449	NM_182699.4(DDX53):c.1535A>C (p.Asp512Ala)	DDX53, PTCHD1-AS (D512A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379743	NM_182699.4(DDX53):c.96G>C (p.Trp32Cys)	DDX53, PTCHD1-AS (W32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361432	NM_182699.4(DDX53):c.1250T>A (p.Leu417Gln)	DDX53, PTCHD1-AS (L417Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357300	NM_182699.4(DDX53):c.1577T>G (p.Ile526Arg)	DDX53, PTCHD1-AS (I526R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333158	NM_182699.4(DDX53):c.571A>G (p.Met191Val)	DDX53, PTCHD1-AS (M191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319406	NM_182699.4(DDX53):c.1313T>C (p.Val438Ala)	DDX53, PTCHD1-AS (V438A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259187	NM_182699.4(DDX53):c.1241T>C (p.Val414Ala)	DDX53, PTCHD1-AS (V414A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236533	NM_182699.4(DDX53):c.365A>C (p.Glu122Ala)	DDX53, PTCHD1-AS (E122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232733	NM_182699.4(DDX53):c.1693G>A (p.Gly565Ser)	DDX53, PTCHD1-AS (G565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226975	NM_182699.4(DDX53):c.1244G>A (p.Arg415His)	DDX53, PTCHD1-AS (R415H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204382	NM_182699.4(DDX53):c.400A>G (p.Ile134Val)	DDX53, PTCHD1-AS (I134V)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1344623	NM_182699.4(DDX53):c.24G>A (p.Trp8Ter)	DDX53, PTCHD1-AS (W8*)	Single nucleotide variant (nonsense)	Nephrotic syndrome	GUncertain significance
Select item 980272	GRCh37/hg19 Xp22.11(chrX:22872880-23065398)x1	DDX53	Copy number loss	not provided	GUncertain significance
Select item 777789	NM_182699.4(DDX53):c.1496G>T (p.Gly499Val)	DDX53, PTCHD1-AS (G499V)	Single nucleotide variant (missense variant)	DDX53-related disorder +1 more	GBenign
Select item 765069	NM_182699.4(DDX53):c.315C>T (p.Ala105=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder +1 more	GBenign
Select item 740094	NM_182699.4(DDX53):c.1707C>T (p.Thr569=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724376	NM_182699.4(DDX53):c.113A>G (p.His38Arg)	DDX53, PTCHD1-AS (H38R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 717072	NM_182699.4(DDX53):c.490G>A (p.Glu164Lys)	DDX53, PTCHD1-AS (E164K)	Single nucleotide variant (missense variant)	DDX53-related disorder +1 more	GLikely benign
Select item 716722	NM_182699.4(DDX53):c.319G>T (p.Ala107Ser)	DDX53, PTCHD1-AS (A107S)	Single nucleotide variant (missense variant)	DDX53-related disorder +1 more	GBenign/Likely benign
Select item 687807	GRCh37/hg19 Xp22.11(chrX:22767191-23251423)x0	DDX53	Copy number loss	not provided	GUncertain significance
Select item 442556	GRCh37/hg19 Xp22.11(chrX:22733327-23174389)x1	DDX53	Copy number loss	See cases	GUncertain significance
Select item 442446	GRCh37/hg19 Xp22.11(chrX:22920219-23304791)x0	DDX53	Copy number loss	See cases	GUncertain significance
Select item 442091	GRCh37/hg19 Xp22.11(chrX:22850381-23124980)x1	DDX53	Copy number loss	See cases	GUncertain significance
Select item 422437	NM_182699.4(DDX53):c.488G>A (p.Cys163Tyr)	PTCHD1-AS, DDX53 (C163Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 395257	GRCh37/hg19 Xp22.11(chrX:23018417-23093129)x0	DDX53	Copy number loss	See cases	GLikely pathogenic
Select item 394403	GRCh37/hg19 Xp22.11(chrX:22960744-23019707)x0	DDX53	Copy number loss	See cases	GPathogenic
Select item 394402	GRCh37/hg19 Xp22.11(chrX:22960744-23019707)x1	DDX53	Copy number loss	See cases	GPathogenic
Select item 373454	NM_182699.4(DDX53):c.812G>A (p.Gly271Glu)	DDX53, PTCHD1-AS (G271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 67