ClinVar for Gene (Select 1653) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271233	NM_004939.3(DDX1):c.2135T>C (p.Val712Ala)	DDX1 (V712A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271232	NM_004939.3(DDX1):c.1697T>C (p.Val566Ala)	DDX1 (V566A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271231	NM_004939.3(DDX1):c.1161G>A (p.Met387Ile)	DDX1 (M387I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271230	NM_004939.3(DDX1):c.1508A>T (p.Glu503Val)	DDX1 (E503V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247566	NC_000002.11:g.(?_15601305)_(17362569_?)dup	CYRIA, DDX1 +3 more	Duplication	not provided	GUncertain significance
Select item 3247533	NC_000002.11:g.(?_15307172)_(17963206_?)dup	CYRIA, DDX1 +7 more	Duplication	not provided	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3080852	NM_004939.3(DDX1):c.977G>T (p.Gly326Val)	DDX1 (G326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080850	NM_004939.3(DDX1):c.89C>A (p.Ala30Asp)	DDX1 (A30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080849	NM_004939.3(DDX1):c.781G>T (p.Ala261Ser)	DDX1 (A261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080848	NM_004939.3(DDX1):c.736G>C (p.Glu246Gln)	DDX1 (E246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080847	NM_004939.3(DDX1):c.632A>T (p.Asp211Val)	DDX1 (D211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080845	NM_004939.3(DDX1):c.178G>C (p.Val60Leu)	DDX1 (V60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080844	NM_004939.3(DDX1):c.1084T>C (p.Ser362Pro)	DDX1 (S362P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080842	NM_004939.3(DDX1):c.1016G>A (p.Gly339Glu)	DDX1 (G339E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062616	GRCh37/hg19 2p24.3(chr2:12289529-16104486)x1	DDX1, LRATD1 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2624210	NM_004939.3(DDX1):c.1549A>G (p.Ile517Val)	DDX1 (I517V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618959	NM_004939.3(DDX1):c.1423A>C (p.Thr475Pro)	DDX1 (T475P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612099	NM_004939.3(DDX1):c.424C>G (p.Gln142Glu)	DDX1 (Q142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555242	NM_004939.3(DDX1):c.1922C>T (p.Thr641Ile)	DDX1 (T641I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542661	NM_004939.3(DDX1):c.1078A>T (p.Asn360Tyr)	DDX1 (N360Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488127	NM_004939.3(DDX1):c.1352A>C (p.Lys451Thr)	DDX1 (K451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483124	NM_004939.3(DDX1):c.1622C>T (p.Ser541Leu)	DDX1 (S541L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480897	NM_004939.3(DDX1):c.545A>G (p.Tyr182Cys)	DDX1 (Y182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378072	NM_004939.3(DDX1):c.564G>A (p.Met188Ile)	DDX1 (M188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376484	NM_004939.3(DDX1):c.938T>C (p.Ile313Thr)	DDX1 (I313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314159	NM_004939.3(DDX1):c.2024C>T (p.Pro675Leu)	DDX1 (P675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308688	NM_004939.3(DDX1):c.2178C>G (p.Phe726Leu)	DDX1 (F726L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306239	NM_004939.3(DDX1):c.2117A>C (p.Asp706Ala)	DDX1 (D706A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290426	NM_004939.3(DDX1):c.200C>T (p.Thr67Ile)	DDX1 (T67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287108	NM_004939.3(DDX1):c.1427G>T (p.Arg476Ile)	DDX1 (R476I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272288	NM_004939.3(DDX1):c.268A>G (p.Lys90Glu)	DDX1 (K90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268194	NM_004939.3(DDX1):c.1495C>T (p.Arg499Trp)	DDX1 (R499W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266230	NM_004939.3(DDX1):c.13T>A (p.Ser5Thr)	DDX1, LOC129933156 (S5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264299	NM_004939.3(DDX1):c.2032A>G (p.Lys678Glu)	DDX1 (K678E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242324	NM_004939.3(DDX1):c.1219T>C (p.Ser407Pro)	DDX1 (S407P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230036	NM_004939.3(DDX1):c.7G>A (p.Ala3Thr)	DDX1, LOC129933156 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225192	NM_004939.3(DDX1):c.664A>G (p.Met222Val)	DDX1 (M222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224554	NM_004939.3(DDX1):c.785C>T (p.Pro262Leu)	DDX1 (P262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214924	NM_004939.3(DDX1):c.1528A>G (p.Ile510Val)	DDX1 (I510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1458517	NC_000002.11:g.(?_15760332)_(17692222_?)del	CYRIA, DDX1 +3 more	Deletion	not provided	GPathogenic
Select item 1180531	GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1	CYRIA, DDX1 +13 more	Copy number loss	not provided	GPathogenic
Select item 979981	GRCh37/hg19 2p24.3(chr2:15621732-16226970)x3	MYCN, DDX1 +2 more	Copy number gain	not provided	GPathogenic
Select item 814222	GRCh37/hg19 2p24.3-24.2(chr2:15478363-17062394)x3	CYRIA, NBAS +3 more	Copy number gain	not provided	GPathogenic
Select item 812922	NC_000002.11:g.15744252_17675820del	DDX1, CYRIA +2 more	Deletion	Peripheral edema +4 more	GLikely pathogenic
Select item 711814	NM_004939.3(DDX1):c.1947T>C (p.Cys649=)	DDX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709719	NM_004939.3(DDX1):c.1341A>T (p.Pro447=)	DDX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688603	GRCh37/hg19 2p24.3(chr2:15636487-15786810)x3	DDX1, NBAS	Copy number gain	not provided	GUncertain significance
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 686578	GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3	CYRIA, DDX1 +11 more	Copy number gain	not provided	GPathogenic
Select item 562622	GRCh37/hg19 2p24.3(chr2:15718236-16693828)x3	DDX1, MYCN +1 more	Copy number gain	not provided	GPathogenic
Select item 549581	Single allele	NBAS, MYCN +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 147945	GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1	DDX1, GACAT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 145383	GRCh38/hg38 2p24.3(chr2:14715345-16305738)x3	DDX1, GACAT3 +17 more	Copy number gain	See cases	GUncertain significance
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 72