"GeneDx"[submitter] AND "CEP41"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 911314	NM_018718.3(CEP41):c.*136T>G	CEP41	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 128704	NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro)	CEP41 (S361P +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 472884	NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)	CEP41 (S355R +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GLikely benign
Select item 847788	NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)	CEP41 (Q258R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 358939	NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)	CEP41 (S337P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1014451	NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)	CEP41 (G246R +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 1251244	NM_018718.3(CEP41):c.974-152_974-149dup	CEP41	Duplication (intron variant)	not provided	GBenign
Select item 1293013	NM_018718.3(CEP41):c.973+207dup	CEP41	Duplication (intron variant)	not provided	GBenign
Select item 1240986	NM_018718.3(CEP41):c.973+207_973+208dup	CEP41	Duplication (intron variant)	not provided	GBenign
Select item 1179537	NM_018718.3(CEP41):c.973+207_973+209dup	CEP41	Duplication (intron variant)	not provided	GLikely benign
Select item 392987	NM_018718.3(CEP41):c.851G>A (p.Arg284Gln)	CEP41 (R284Q)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 261056	NM_018718.3(CEP41):c.786G>A (p.Pro262=)	CEP41	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 15 +2 more	GConflicting classifications of pathogenicity
Select item 391647	NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)	CEP41 (G252R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 128705	NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)	CEP41 (C240G +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +2 more	GBenign/Likely benign
Select item 678347	NM_018718.3(CEP41):c.643-166A>C	CEP41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675901	NM_018718.3(CEP41):c.642+84A>G	CEP41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 358942	NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)	CEP41 (P206A +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 507369	NM_018718.3(CEP41):c.575-12T>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15 +1 more	GBenign/Likely benign
Select item 261055	NM_018718.3(CEP41):c.575-14del	CEP41	Deletion (intron variant)	Joubert syndrome 15 +1 more	GBenign
Select item 1260929	NM_018718.3(CEP41):c.574+295dup	CEP41	Duplication (intron variant)	not provided	GBenign
Select item 1198523	NM_018718.3(CEP41):c.574+295_574+296dup	CEP41	Duplication (intron variant)	not provided	GLikely benign
Select item 1212843	NM_018718.3(CEP41):c.574+302_574+303insG	CEP41	Insertion (intron variant)	not provided	GLikely benign
Select item 1284183	NM_018718.3(CEP41):c.574+294G>T	CEP41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258886	NM_018718.3(CEP41):c.574+294del	CEP41	Deletion (intron variant)	not provided	GBenign
Select item 1197558	NM_018718.3(CEP41):c.574+269T>C	CEP41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432833	NM_018718.3(CEP41):c.431G>A (p.Ser144Asn)	CEP41 (S144N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1202240	NM_018718.3(CEP41):c.423-135G>A	CEP41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204890	NM_018718.3(CEP41):c.423-293G>A	CEP41	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 390041	NM_018718.3(CEP41):c.422+7G>A	CEP41	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 280165	NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)	CEP41 (Q140* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 508800	NM_018718.3(CEP41):c.278-15A>C	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 384130	NM_018718.3(CEP41):c.278-15A>T	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 285274	NM_018718.3(CEP41):c.208-5A>G	CEP41	Single nucleotide variant (intron variant)	Joubert syndrome 15 +2 more	GBenign/Likely benign
Select item 1219355	NM_018718.3(CEP41):c.208-38A>C	CEP41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677626	NM_018718.3(CEP41):c.208-173T>C	CEP41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217591	NM_018718.3(CEP41):c.146-180C>A	CEP41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215979	NM_018718.3(CEP41):c.145+311A>C	CEP41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 963719	NM_018718.3(CEP41):c.145+6del	CEP41	Deletion (intron variant)	Joubert syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 30842	NM_018718.3(CEP41):c.107T>C (p.Met36Thr)	CEP41 (M36T)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 1187419	NM_018718.3(CEP41):c.98-305C>G	CEP41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225453	NM_018718.3(CEP41):c.97+220=	CEP41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677529	NM_018718.3(CEP41):c.97+128G>A	CEP41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 358945	NM_018718.3(CEP41):c.53C>T (p.Pro18Leu)	CEP41 (P18L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 678331	NM_018718.3(CEP41):c.33+235A>G	CEP41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293627	NM_018718.3(CEP41):c.33+142GCGGG[3]	CEP41	Microsatellite (intron variant)	not provided	GBenign
Select item 707167	NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)	CEP41 (I7T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 261053	NM_018718.3(CEP41):c.-5A>C	CEP41	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 358947	NM_018718.2(CEP41):c.-144G>A	CEP41	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign/Likely benign
Select item 358949	NM_018718.2(CEP41):c.-178C>A	CEP41	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358948	NM_018718.2(CEP41):c.-178C>T	CEP41	Single nucleotide variant (genic upstream transcript variant)	Familial aplasia of the vermis +1 more	GBenign/Likely benign
Select item 358950	NM_018718.2(CEP41):c.-243G>A	CEP41	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1290496	NC_000007.14:g.130441229dup	CEP41	Duplication	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53