"ANKH-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042442	NM_054027.6(ANKH):c.*10C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	ANKH-related disorder	GLikely benign
Select item 1197982	NM_054027.6(ANKH):c.1431G>A (p.Pro477=)	ANKH, OTULIN	Single nucleotide variant (synonymous variant)	ANKH-related disorder +1 more	GLikely benign
Select item 2636286	NM_054027.6(ANKH):c.1342G>A (p.Ala448Thr)	ANKH, LOC100130744 +1 more (A448T)	Single nucleotide variant (missense variant +1 more)	ANKH-related disorder +1 more	GUncertain significance
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)	not provided +3 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)	Chondrocalcinosis 2 +3 more	GBenign/Likely benign
Select item 743006	NM_054027.6(ANKH):c.1266-6C>T	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	ANKH-related disorder +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 382267	NM_054027.6(ANKH):c.1042G>A (p.Val348Met)	ANKH (V348M)	Single nucleotide variant (missense variant)	ANKH-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 903973	NM_054027.6(ANKH):c.1021G>A (p.Val341Met)	ANKH (V341M)	Single nucleotide variant (missense variant)	ANKH-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 775071	NM_054027.6(ANKH):c.987C>T (p.Phe329=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 2635991	NM_054027.6(ANKH):c.976A>C (p.Lys326Gln)	ANKH (K326Q)	Single nucleotide variant (missense variant)	ANKH-related disorder	GUncertain significance
Select item 3029519	NM_054027.6(ANKH):c.649C>G (p.His217Asp)	ANKH (H217D)	Single nucleotide variant (missense variant)	ANKH-related disorder	GUncertain significance
Select item 351544	NM_054027.6(ANKH):c.560G>A (p.Arg187Gln)	ANKH (R187Q)	Single nucleotide variant (missense variant)	Chondrocalcinosis 2 +4 more	GBenign/Likely benign
Select item 769645	NM_054027.6(ANKH):c.369G>A (p.Ser123=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +3 more	GBenign/Likely benign
Select item 351560	NM_054027.6(ANKH):c.288C>T (p.Ile96=)	ANKH	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign