ClinVar for Gene (Select 51428) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246527	NC_000005.9:g.(?_176936891)_(176939413_?)del	DDX41, DOK3	Deletion	not provided	GUncertain significance
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
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 3064227	NM_016222.4(DDX41):c.1302+3G>A	DDX41	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3062847	GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3	B4GALT7, DBN1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 3061657	NM_016222.4(DDX41):c.714C>T (p.Pro238=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 3061289	NM_016222.4(DDX41):c.1510G>A (p.Val504Ile)	DDX41 (V378I +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder +1 more	GUncertain significance
Select item 3057954	NM_016222.4(DDX41):c.1668G>A (p.Lys556=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 3054698	NM_016222.4(DDX41):c.*1G>A	DDX41	Single nucleotide variant (3 prime UTR variant)	DDX41-related disorder	GLikely benign
Select item 3053414	NM_016222.4(DDX41):c.1230+8G>A	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 3053360	NM_016222.4(DDX41):c.28-10G>C	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 3050842	NM_016222.4(DDX41):c.572-5C>T	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 3050585	NM_016222.4(DDX41):c.1593C>T (p.Ile531=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 3050365	NM_016222.4(DDX41):c.298+8G>T	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 3042404	NM_016222.4(DDX41):c.154C>T (p.Gln52Ter)	DDX41 (Q52*)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related disorder	GLikely pathogenic
Select item 3036817	NM_016222.4(DDX41):c.508C>T (p.Leu170=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 3036725	NM_016222.4(DDX41):c.1585A>C (p.Thr529Pro)	DDX41 (T403P +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder	GUncertain significance
Select item 3032027	NM_016222.4(DDX41):c.192G>A (p.Gln64=)	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related disorder	GLikely benign
Select item 3031099	NM_016222.4(DDX41):c.435-9C>T	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 3029275	NM_016222.4(DDX41):c.627C>T (p.Ile209=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 3022426	NM_016222.4(DDX41):c.1399+18A>T	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018084	NM_016222.4(DDX41):c.1680G>A (p.Pro560=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014999	NM_016222.4(DDX41):c.164G>T (p.Arg55Leu)	DDX41 (R55L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3014347	NM_016222.4(DDX41):c.1565G>A (p.Arg522His)	DDX41 (R522H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013036	NM_016222.4(DDX41):c.298+19C>G	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011422	NM_016222.4(DDX41):c.1154_1155del (p.Phe385fs)	DDX41 (F259fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3011159	NM_016222.4(DDX41):c.367G>A (p.Gly123Ser)	DDX41 (G123S)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 3009994	NM_016222.4(DDX41):c.139-12G>C	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3009524	NM_016222.4(DDX41):c.774C>T (p.Pro258=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008275	NM_016222.4(DDX41):c.1098+11del	DDX41	Deletion (intron variant)	not provided	GBenign
Select item 3007797	NM_016222.4(DDX41):c.1026C>G (p.Ala342=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004754	NM_016222.4(DDX41):c.572-16C>T	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004140	NM_016222.4(DDX41):c.801G>T (p.Arg267=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002579	NM_016222.4(DDX41):c.374-15T>C	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001125	NM_016222.4(DDX41):c.16C>A (p.Pro6Thr)	DDX41 (P6T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3000839	NM_016222.4(DDX41):c.464T>C (p.Met155Thr)	DDX41 (M29T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000236	NM_016222.4(DDX41):c.139C>T (p.Leu47Phe)	DDX41 (L47F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3000009	NM_016222.4(DDX41):c.298+13_298+14delinsAT	DDX41	Indel (intron variant)	not provided	GUncertain significance
Select item 2999688	NM_016222.4(DDX41):c.27+11G>A	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999327	NM_016222.4(DDX41):c.1099-16C>G	DDX41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2999326	NM_016222.4(DDX41):c.1099-11del	DDX41	Deletion (intron variant)	not provided	GBenign
Select item 2997874	NM_016222.4(DDX41):c.1225A>G (p.Ile409Val)	DDX41 (I409V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996416	NM_016222.4(DDX41):c.373+4T>C	DDX41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2994560	NM_016222.4(DDX41):c.608A>G (p.His203Arg)	DDX41 (H203R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993585	NM_016222.4(DDX41):c.783C>T (p.Leu261=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993156	NM_016222.4(DDX41):c.1621+6T>C	DDX41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2993077	NM_016222.4(DDX41):c.1303-17T>G	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992817	NM_016222.4(DDX41):c.1733-17del	DDX41	Deletion (intron variant)	not provided	GLikely benign
Select item 2992403	NM_016222.4(DDX41):c.1224C>T (p.Val408=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989780	NM_016222.4(DDX41):c.1368G>C (p.Gly456=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988481	NM_016222.4(DDX41):c.374-16A>G	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987652	NM_016222.4(DDX41):c.434+3A>G	DDX41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2984038	NM_016222.4(DDX41):c.248C>T (p.Ser83Phe)	DDX41 (S83F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2982992	NM_016222.4(DDX41):c.1550-11_1550-9del	DDX41	Deletion (intron variant)	not provided	GLikely benign
Select item 2982616	NM_016222.4(DDX41):c.27+17A>C	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981332	NM_016222.4(DDX41):c.753C>A (p.Pro251=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980765	NM_016222.4(DDX41):c.104C>G (p.Pro35Arg)	DDX41 (P35R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2979725	NM_016222.4(DDX41):c.434+13A>G	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979285	NM_016222.4(DDX41):c.708G>A (p.Thr236=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974753	NM_016222.4(DDX41):c.456T>A (p.Val152=)	DDX41	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2974612	NM_016222.4(DDX41):c.507C>T (p.Ile169=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972395	NM_016222.4(DDX41):c.163C>T (p.Arg55Cys)	DDX41 (R55C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2971951	NM_016222.4(DDX41):c.435-8A>C	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder +1 more	GLikely benign
Select item 2971728	NM_016222.4(DDX41):c.138+13C>T	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2971476	NM_016222.4(DDX41):c.752C>T (p.Pro251Leu)	DDX41 (P125L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970360	NM_016222.4(DDX41):c.1167C>A (p.Ala389=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969806	NM_016222.4(DDX41):c.374-12C>T	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969582	NM_016222.4(DDX41):c.1740C>T (p.Arg580=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969006	NM_016222.4(DDX41):c.1338C>T (p.Asp446=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967874	NM_016222.4(DDX41):c.1062C>T (p.Phe354=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966740	NM_016222.4(DDX41):c.644+10G>T	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964732	NM_016222.4(DDX41):c.27+9G>C	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964306	NM_016222.4(DDX41):c.1098+12G>C	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963527	NM_016222.4(DDX41):c.374-17C>T	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963193	NM_016222.4(DDX41):c.876G>A (p.Leu292=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961972	NM_016222.4(DDX41):c.27+19C>T	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign

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