"Genome-Nilou Lab"[submitter] AND "OTULIN"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 351496	NM_054027.6(ANKH):c.*31A>G	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 351498	NM_054027.6(ANKH):c.1453G>A (p.Val485Met)	ANKH, OTULIN (V485M)	Single nucleotide variant (missense variant)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 905792	NM_054027.6(ANKH):c.1365+9G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 351499	NM_054027.6(ANKH):c.1338C>T (p.Ile446=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 351500	NM_054027.6(ANKH):c.1332C>T (p.Val444=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 351502	NM_054027.6(ANKH):c.1272C>T (p.His424=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 743006	NM_054027.6(ANKH):c.1266-6C>T	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign/Likely benign
Select item 351503	NM_054027.6(ANKH):c.1265+6T>C	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GBenign
Select item 283343	NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)	ANKH, LOC100130744 +1 more (A413T)	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +3 more	GBenign/Likely benign