ClinVar for Gene (Select 168400) - ClinVar - NCBI

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	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 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
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)	DDX53, PTCHD1-AS (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 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
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 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
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	GLikely 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	GUncertain significance
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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 +1 more	GLikely benign
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
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 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 980275	GRCh37/hg19 Xp22.11(chrX:22463390-23406620)x2	PTCHD1, DDX53	Copy number gain	not provided	GUncertain significance
Select item 980272	GRCh37/hg19 Xp22.11(chrX:22872880-23065398)x1	DDX53	Copy number loss	not provided	GUncertain significance
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 777789	NM_182699.4(DDX53):c.1496G>T (p.Gly499Val)	PTCHD1-AS, DDX53 (G499V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 765069	NM_182699.4(DDX53):c.315C>T (p.Ala105=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	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	GBenign
Select item 717072	NM_182699.4(DDX53):c.490G>A (p.Glu164Lys)	DDX53, PTCHD1-AS (E164K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716722	NM_182699.4(DDX53):c.319G>T (p.Ala107Ser)	DDX53, PTCHD1-AS (A107S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688883	GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 688395	GRCh37/hg19 Xp22.11(chrX:22946630-23481118)x3	DDX53, PTCHD1	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687807	GRCh37/hg19 Xp22.11(chrX:22767191-23251423)x0	DDX53	Copy number loss	not provided	GUncertain significance
Select item 686970	GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1	ACOT9, APOO +42 more	Copy number loss	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 564694	GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	PRDX4, ADGRG2 +94 more	Copy number loss	not provided	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443634	GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	ACE2, ACOT9 +127 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic

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