"Illumina Laboratory Services, Illumina"[submitter] AND "OTULIN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 351387	NM_054027.6(ANKH):c.*6386G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 906739	NM_054027.6(ANKH):c.*6368G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906740	NM_054027.6(ANKH):c.*6235G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906741	NM_054027.6(ANKH):c.*6226G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351388	NM_054027.6(ANKH):c.*6205G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351389	NM_054027.6(ANKH):c.*6163A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351390	NM_054027.6(ANKH):c.*6129G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351391	NM_054027.6(ANKH):c.*6041T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351392	NM_054027.6(ANKH):c.*6034A>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351393	NM_054027.6(ANKH):c.*6012T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904414	NM_054027.6(ANKH):c.*6006A>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904415	NM_054027.6(ANKH):c.*5980C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905213	NM_054027.6(ANKH):c.*5930C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351394	NM_054027.6(ANKH):c.*5912dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 351396	NM_054027.6(ANKH):c.*5912T>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351395	NM_054027.6(ANKH):c.*5912del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 905214	NM_054027.6(ANKH):c.*5906T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905215	NM_054027.6(ANKH):c.*5900T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906804	NM_054027.6(ANKH):c.*5899A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351397	NM_054027.6(ANKH):c.*5898G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351399	NM_054027.6(ANKH):c.*5895C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351398	NM_054027.6(ANKH):c.*5895C>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 907799	NM_054027.6(ANKH):c.*5887G>C	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351400	NM_054027.6(ANKH):c.*5768T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 907800	NM_054027.6(ANKH):c.*5759G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351401	NM_054027.6(ANKH):c.*5725G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351402	NM_054027.6(ANKH):c.*5662C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351403	NM_054027.6(ANKH):c.*5641A>G	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351404	NM_054027.6(ANKH):c.*5593G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905262	NM_054027.6(ANKH):c.*5579G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905263	NM_054027.6(ANKH):c.*5518C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351405	NM_054027.6(ANKH):c.*5459C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351406	NM_054027.6(ANKH):c.*5281del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351407	NM_054027.6(ANKH):c.*5136del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GLikely benign
Select item 905264	NM_054027.6(ANKH):c.*5062A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351408	NM_054027.6(ANKH):c.*5034del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Chondrocalcinosis +2 more	GConflicting classifications of pathogenicity
Select item 906862	NM_054027.6(ANKH):c.*4982T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351409	NM_054027.6(ANKH):c.*4958T>C	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906863	NM_054027.6(ANKH):c.*4811A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906864	NM_054027.6(ANKH):c.*4777C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351410	NM_054027.6(ANKH):c.*4704T>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351411	NM_054027.6(ANKH):c.*4672G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 907853	NM_054027.6(ANKH):c.*4635A>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351412	NM_054027.6(ANKH):c.*4624A>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904540	NM_054027.6(ANKH):c.*4610C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351413	NM_054027.6(ANKH):c.*4513G>A	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904541	NM_054027.6(ANKH):c.*4428T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904542	NM_054027.6(ANKH):c.*4351C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351414	NM_054027.6(ANKH):c.*4268C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351415	NM_054027.6(ANKH):c.*4251T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351416	NM_054027.6(ANKH):c.*4250T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351417	NM_054027.6(ANKH):c.*4244T>A	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351418	NM_054027.6(ANKH):c.*4219T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351419	NM_054027.6(ANKH):c.*4182T>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351420	NM_054027.6(ANKH):c.*4137G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351421	NM_054027.6(ANKH):c.*4103G>A	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351422	NM_054027.6(ANKH):c.*3962T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351423	NM_054027.6(ANKH):c.3928_3929del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351424	NM_054027.6(ANKH):c.*3928C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351426	NM_054027.6(ANKH):c.*3900T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351425	NM_054027.6(ANKH):c.*3900del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GBenign
Select item 351427	NM_054027.6(ANKH):c.*3899T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904617	NM_054027.6(ANKH):c.*3752G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 351428	NM_054027.6(ANKH):c.*3706G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351429	NM_054027.6(ANKH):c.*3698T>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351430	NM_054027.6(ANKH):c.*3664C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351431	NM_054027.6(ANKH):c.*3628T>C	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351432	NM_054027.6(ANKH):c.*3627G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351433	NM_054027.6(ANKH):c.*3616C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 905921	NM_054027.6(ANKH):c.*3567G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905922	NM_054027.6(ANKH):c.*3562G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351434	NM_054027.6(ANKH):c.*3559G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 907991	NM_054027.6(ANKH):c.*3554C>T	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351435	NM_054027.6(ANKH):c.*3548G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 907992	NM_054027.6(ANKH):c.*3543G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904680	NM_054027.6(ANKH):c.*3509G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351436	NM_054027.6(ANKH):c.*3420T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 351437	NM_054027.6(ANKH):c.*3386G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 904681	NM_054027.6(ANKH):c.*3359T>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351438	NM_054027.6(ANKH):c.3336_3339del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GLikely benign
Select item 904682	NM_054027.6(ANKH):c.*3224T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905472	NM_054027.6(ANKH):c.*3172A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905473	NM_054027.6(ANKH):c.*3133C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351439	NM_054027.6(ANKH):c.*2974G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GLikely benign
Select item 905474	NM_054027.6(ANKH):c.*2959T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351440	NM_054027.6(ANKH):c.*2770C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 351441	NM_054027.6(ANKH):c.*2714T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351442	NM_054027.6(ANKH):c.*2699G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +2 more	GBenign
Select item 351443	NM_054027.6(ANKH):c.*2694T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907008	NM_054027.6(ANKH):c.*2674C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905985	NM_054027.6(ANKH):c.*2674C>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351444	NM_054027.6(ANKH):c.*2644G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351445	NM_054027.6(ANKH):c.*2543G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351446	NM_054027.6(ANKH):c.*2511C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351447	NM_054027.6(ANKH):c.*2428G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 904755	NM_054027.6(ANKH):c.*2393A>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351448	NM_054027.6(ANKH):c.*2392G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351449	NM_054027.6(ANKH):c.*2301dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351450	NM_054027.6(ANKH):c.*2301del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 904756	NM_054027.6(ANKH):c.*2262G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign

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