C0220687[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522263	NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)	ANKRD11 (P2307S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 521294	NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs)	ANKRD11 (A2265fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 589339	NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu)	ANKRD11 (P2022L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588478	NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)	ANKRD11, TRAPPC2L (S1878P)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 589488	NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)	ANKRD11 (P1837S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign
Select item 733721	NM_013275.6(ANKRD11):c.5274C>T (p.Pro1758=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 445952	NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)	ANKRD11 (D1696E)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 446826	NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 585405	NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1197711	NM_013275.6(ANKRD11):c.2880G>C (p.Glu960Asp)	ANKRD11 (E960D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 434196	NM_013275.6(ANKRD11):c.2373G>A (p.Lys791=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1175012	NM_013275.6(ANKRD11):c.924C>T (p.Phe308=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +3 more	GLikely benign