ClinVar for MedGen (Select 895780) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241315	NM_016222.4(DDX41):c.524G>T (p.Gly175Val)	DDX41 (G175V +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241314	NM_016222.4(DDX41):c.1622-3C>A	DDX41	Single nucleotide variant (intron variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241313	NM_016222.4(DDX41):c.881G>T (p.Cys294Phe)	DDX41 (C294F +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241312	NM_016222.4(DDX41):c.839A>G (p.Tyr280Cys)	DDX41 (Y154C +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241311	NM_016222.4(DDX41):c.435-6C>G	DDX41	Single nucleotide variant (intron variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241310	NM_016222.4(DDX41):c.797C>T (p.Ser266Leu)	DDX41 (S140L +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241309	NM_016222.4(DDX41):c.448C>T (p.Arg150Cys)	DDX41 (R150C +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241308	NM_016222.4(DDX41):c.1435C>T (p.Arg479Trp)	DDX41 (R353W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3241307	NM_016222.4(DDX41):c.458T>G (p.Leu153Arg)	DDX41 (L153R +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241306	NM_016222.4(DDX41):c.4G>C (p.Glu2Gln)	DDX41 (E2Q)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241305	NM_016222.4(DDX41):c.1042C>T (p.Arg348Cys)	DDX41 (R222C +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241304	NM_016222.4(DDX41):c.299-3C>A	DDX41	Single nucleotide variant (intron variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241303	NM_016222.4(DDX41):c.223G>A (p.Asp75Asn)	DDX41 (D75N)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241302	NM_016222.4(DDX41):c.1159A>C (p.Lys387Gln)	DDX41 (K261Q +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241301	NM_016222.4(DDX41):c.72G>C (p.Glu24Asp)	DDX41 (E24D)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241300	NM_016222.4(DDX41):c.1168C>T (p.Leu390Phe)	DDX41 (L264F +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241299	NM_016222.4(DDX41):c.741G>C (p.Glu247Asp)	DDX41 (E121D +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241298	NM_016222.4(DDX41):c.938G>A (p.Gly313Asp)	DDX41 (G187D +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241297	NM_016222.4(DDX41):c.89A>C (p.Asp30Ala)	DDX41 (D30A)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241296	NM_016222.4(DDX41):c.739G>A (p.Glu247Lys)	DDX41 (E121K +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241295	NM_016222.4(DDX41):c.751C>G (p.Pro251Ala)	DDX41 (P125A +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241294	NM_016222.4(DDX41):c.400A>G (p.Lys134Glu)	DDX41 (K134E +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3241293	NM_016222.4(DDX41):c.798G>A (p.Ser266=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3081025	NM_016222.4(DDX41):c.212G>A (p.Arg71Gln)	DDX41 (R71Q)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 3061289	NM_016222.4(DDX41):c.1510G>A (p.Val504Ile)	DDX41 (V378I +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 3011159	NM_016222.4(DDX41):c.367G>A (p.Gly123Ser)	DDX41 (G123S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2907038	NM_016222.4(DDX41):c.524G>A (p.Gly175Asp)	DDX41 (G49D +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2885390	NM_016222.4(DDX41):c.451T>C (p.Tyr151His)	DDX41 (Y151H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2820126	NM_016222.4(DDX41):c.893T>C (p.Ile298Thr)	DDX41 (I298T +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2797565	NM_016222.4(DDX41):c.104C>T (p.Pro35Leu)	DDX41 (P35L)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2674798	NM_016222.4(DDX41):c.13G>T (p.Glu5Ter)	DDX41 (E5*)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GLikely pathogenic
Select item 2674797	NM_016222.4(DDX41):c.935+1G>T	DDX41	Single nucleotide variant (splice donor variant)	DDX41-related hematologic malignancy predisposition syndrome	GLikely pathogenic
Select item 2674796	NM_016222.4(DDX41):c.575del (p.Ile192fs)	DDX41 (I192fs +1 more)	Deletion (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome	GLikely pathogenic
Select item 2674795	NM_016222.4(DDX41):c.1496del (p.Pro499fs)	DDX41 (P373fs +1 more)	Deletion (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2674794	NM_016222.4(DDX41):c.55G>T (p.Gly19Ter)	DDX41 (G19*)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GLikely pathogenic
Select item 2674792	NM_016222.4(DDX41):c.108T>A (p.Tyr36Ter)	DDX41 (Y36*)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GLikely pathogenic
Select item 2674791	NM_016222.4(DDX41):c.712C>T (p.Pro238Ser)	DDX41 (P112S +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674790	NM_016222.4(DDX41):c.207A>C (p.Glu69Asp)	DDX41 (E69D)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674789	NM_016222.4(DDX41):c.68C>T (p.Ser23Phe)	DDX41 (S23F)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674788	NM_016222.4(DDX41):c.632G>A (p.Gly211Asp)	DDX41 (G211D +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674787	NM_016222.4(DDX41):c.204T>G (p.Ser68Arg)	DDX41 (S68R)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674785	NM_016222.4(DDX41):c.1309A>G (p.Ile437Val)	DDX41 (I311V +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674784	NM_016222.4(DDX41):c.845G>A (p.Arg282His)	DDX41 (R156H +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674783	NM_016222.4(DDX41):c.722T>C (p.Met241Thr)	DDX41 (M115T +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674782	NM_016222.4(DDX41):c.853C>G (p.Gln285Glu)	DDX41 (Q159E +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674781	NM_016222.4(DDX41):c.27G>A (p.Lys9=)	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674780	NM_016222.4(DDX41):c.1259A>G (p.Lys420Arg)	DDX41 (K294R +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674779	NM_016222.4(DDX41):c.940G>A (p.Val314Ile)	DDX41 (V188I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2674778	NM_016222.4(DDX41):c.214G>A (p.Gly72Arg)	DDX41 (G72R)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674777	NM_016222.4(DDX41):c.1494C>A (p.Phe498Leu)	DDX41 (F372L +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674775	NM_016222.4(DDX41):c.900C>T (p.Gly300=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674774	NM_016222.4(DDX41):c.1423A>T (p.Ile475Phe)	DDX41 (I349F +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674773	NM_016222.4(DDX41):c.22C>T (p.Arg8Trp)	DDX41 (R8W)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674772	NM_016222.4(DDX41):c.844C>T (p.Arg282Cys)	DDX41 (R156C +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2674771	NM_016222.4(DDX41):c.410C>T (p.Thr137Met)	DDX41 (T11M +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2674770	NM_016222.4(DDX41):c.963G>A (p.Pro321=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2674769	NM_016222.4(DDX41):c.883G>A (p.Ala295Thr)	DDX41 (A169T +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2674768	NM_016222.4(DDX41):c.88G>A (p.Asp30Asn)	DDX41 (D30N)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2674767	NM_016222.4(DDX41):c.748T>G (p.Leu250Val)	DDX41 (L124V +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2674766	NM_016222.4(DDX41):c.1428G>T (p.Glu476Asp)	DDX41 (E350D +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2663530	NM_016222.4(DDX41):c.208C>T (p.Pro70Ser)	DDX41 (P70S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2634951	NM_016222.4(DDX41):c.255C>G (p.Val85=)	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related disorder +1 more	GUncertain significance
Select item 2629530	NM_016222.4(DDX41):c.1850A>G (p.His617Arg)	DDX41 (H491R +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2577911	NM_016222.4(DDX41):c.878G>A (p.Arg293His)	DDX41 (R167H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2575810	NM_016222.4(DDX41):c.799C>T (p.Arg267Trp)	DDX41 (R141W +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2574743	NM_016222.4(DDX41):c.656G>A (p.Arg219His)	DDX41 (R219H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2573877	NM_016222.4(DDX41):c.571+3A>G	DDX41	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2505028	NM_016222.4(DDX41):c.764G>A (p.Arg255His)	DDX41 (R129H +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2504311	NM_016222.4(DDX41):c.937G>A (p.Gly313Ser)	DDX41 (G187S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2500230	NM_016222.4(DDX41):c.962C>T (p.Pro321Leu)	DDX41 (P195L +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500229	NM_016222.4(DDX41):c.435-1G>T	DDX41	Single nucleotide variant (splice acceptor variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500228	NM_016222.4(DDX41):c.423del (p.Ile142fs)	DDX41 (I142fs +1 more)	Deletion (frameshift variant)	DDX41-related disorder	GLikely pathogenic
Select item 2500227	NM_016222.4(DDX41):c.1709A>G (p.Asp570Gly)	DDX41 (D444G +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500226	NM_016222.4(DDX41):c.1106G>A (p.Arg369Gln)	DDX41 (R243Q +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500225	NM_016222.4(DDX41):c.1126G>A (p.Ala376Thr)	DDX41 (A250T +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500224	NM_016222.4(DDX41):c.1759G>T (p.Gly587Cys)	DDX41 (G461C +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500223	NM_016222.4(DDX41):c.1204G>T (p.Gly402Trp)	DDX41 (G276W +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500222	NM_016222.4(DDX41):c.1589G>A (p.Gly530Asp)	DDX41 (G404D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500221	NM_016222.4(DDX41):c.1036G>C (p.Ala346Pro)	DDX41 (A220P +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500220	NM_016222.4(DDX41):c.1035G>C (p.Glu345Asp)	DDX41 (E219D +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500219	NM_016222.4(DDX41):c.638C>G (p.Pro213Arg)	DDX41 (P213R +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500218	NM_016222.4(DDX41):c.1088_1090del (p.Ser363del)	DDX41 (S237del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2500217	NM_016222.4(DDX41):c.1231-3C>G	DDX41	Single nucleotide variant (intron variant)	DDX41-related hematologic malignancy predisposition syndrome	GPathogenic
Select item 2500216	NM_016222.4(DDX41):c.1603_1605delinsA (p.Phe535fs)	DDX41 (F409fs +1 more)	Indel (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome	GPathogenic
Select item 2500215	NM_016222.4(DDX41):c.935+4A>T	DDX41	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2497956	NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr)	DDX41 (D218Y +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2443109	NM_016222.4(DDX41):c.616C>G (p.Pro206Ala)	DDX41 (P206A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2443108	NM_016222.4(DDX41):c.1354del (p.Leu452fs)	DDX41 (L326fs +1 more)	Deletion (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome	GLikely pathogenic
Select item 2300665	NM_016222.4(DDX41):c.199G>C (p.Gly67Arg)	DDX41 (G67R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2171194	NM_016222.4(DDX41):c.538A>G (p.Ile180Val)	DDX41 (I54V +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +2 more	GUncertain significance
Select item 2167944	NM_016222.4(DDX41):c.189G>C (p.Gln63His)	DDX41 (Q63H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2084495	NM_016222.4(DDX41):c.65G>A (p.Arg22His)	DDX41 (R22H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2082377	NM_016222.4(DDX41):c.577C>G (p.Leu193Val)	DDX41 (L193V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2070571	NM_016222.4(DDX41):c.113C>G (p.Pro38Arg)	DDX41 (P38R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2046667	NM_016222.4(DDX41):c.82G>A (p.Glu28Lys)	DDX41 (E28K)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 1968419	NM_016222.4(DDX41):c.484C>T (p.Arg162Cys)	DDX41 (R36C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1919893	NM_016222.4(DDX41):c.1276G>A (p.Glu426Lys)	DDX41 (E426K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1917434	NM_016222.4(DDX41):c.809C>T (p.Ala270Val)	DDX41 (A270V +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 1916143	NM_016222.4(DDX41):c.1234G>A (p.Val412Ile)	DDX41 (V286I +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 1909916	NM_016222.4(DDX41):c.707C>T (p.Thr236Met)	DDX41 (T236M +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance

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