"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ANKH"[gene - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 351408	NM_054027.6(ANKH):c.*5034del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Chondrocalcinosis +2 more	GConflicting classifications of pathogenicity
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 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 351442	NM_054027.6(ANKH):c.*2699G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +2 more	GBenign
Select item 351478	NM_054027.6(ANKH):c.*840G>C	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 351479	NM_054027.6(ANKH):c.*831T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 2655366	NM_054027.6(ANKH):c.302_321dup	OTULIN, ANKH	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 871186	NM_054027.6(ANKH):c.1402G>T (p.Glu468Ter)	ANKH, OTULIN (E468*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
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)	not specified +4 more	GBenign/Likely benign
Select item 5194	NM_054027.6(ANKH):c.1124_1126del (p.Ser375del)	ANKH (S375del)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2655367	NM_054027.6(ANKH):c.910G>A (p.Asp304Asn)	ANKH (D304N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 351544	NM_054027.6(ANKH):c.560G>A (p.Arg187Gln)	ANKH (R187Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 2655368	NM_054027.6(ANKH):c.384G>A (p.Thr128=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809740	NM_054027.6(ANKH):c.155A>G (p.Tyr52Cys)	ANKH (Y52C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655369	NM_054027.6(ANKH):c.96+93C>T	ANKH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1675980	NM_054027.6(ANKH):c.90G>A (p.Gly30=)	ANKH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 351932	NM_054027.6(ANKH):c.-291CCG[8]	ANKH	Microsatellite (5 prime UTR variant)	Chondrocalcinosis +2 more	GLikely benign