"Genome-Nilou Lab"[submitter] AND "ANKH"[gene] - ClinVar

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Items: 33

	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
Select item 351506	NM_054027.6(ANKH):c.1012-11T>G	ANKH	Single nucleotide variant (intron variant)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 351511	NM_054027.6(ANKH):c.1011+15T>G	ANKH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 775071	NM_054027.6(ANKH):c.987C>T (p.Phe329=)	ANKH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 351512	NM_054027.6(ANKH):c.963A>G (p.Ala321=)	ANKH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 904823	NM_054027.6(ANKH):c.915+14C>T	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 1192173	NM_054027.6(ANKH):c.822+55G>T	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign/Likely benign
Select item 351529	NM_054027.6(ANKH):c.688-14G>A	ANKH	Single nucleotide variant (intron variant)	Chondrocalcinosis 2 +2 more	GBenign
Select item 351542	NM_054027.6(ANKH):c.681G>A (p.Glu227=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 351544	NM_054027.6(ANKH):c.560G>A (p.Arg187Gln)	ANKH (R187Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1199582	NM_054027.6(ANKH):c.517-18C>G	ANKH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1192432	NM_054027.6(ANKH):c.517-51G>A	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 351554	NM_054027.6(ANKH):c.432+13G>A	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 351555	NM_054027.6(ANKH):c.405C>T (p.Leu135=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 769645	NM_054027.6(ANKH):c.369G>A (p.Ser123=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 351556	NM_054027.6(ANKH):c.314-13C>T	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 351558	NM_054027.6(ANKH):c.313+9G>A	ANKH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 351559	NM_054027.6(ANKH):c.294C>T (p.Ala98=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +2 more	GBenign
Select item 351560	NM_054027.6(ANKH):c.288C>T (p.Ile96=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 905081	NM_054027.6(ANKH):c.282G>A (p.Gly94=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 351561	NM_054027.6(ANKH):c.258C>T (p.Ala86=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 290060	NM_054027.6(ANKH):c.102G>A (p.Leu34=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +3 more	GBenign/Likely benign
Select item 1214220	NM_054027.6(ANKH):c.97-13del	ANKH	Deletion (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign/Likely benign
Select item 351926	NM_054027.6(ANKH):c.-4G>A	ANKH	Single nucleotide variant (5 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 351927	NM_054027.6(ANKH):c.-80GTCGCCCC[1]	ANKH, LOC129993725	Microsatellite (5 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +3 more	GBenign

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Items: 33