"ANKRD17-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044401	NM_032217.5(ANKRD17):c.7765C>G (p.Pro2589Ala)	ANKRD17 (P2338A +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GLikely benign
Select item 2632899	NM_032217.5(ANKRD17):c.7409A>G (p.Asp2470Gly)	ANKRD17 (D2219G +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2629916	NM_032217.5(ANKRD17):c.7338T>A (p.Ile2446=)	ANKRD17	Single nucleotide variant (synonymous variant)	ANKRD17-related disorder	GUncertain significance
Select item 1690545	NM_032217.5(ANKRD17):c.7040C>T (p.Ser2347Leu)	ANKRD17 (S2096L +3 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2630807	NM_032217.5(ANKRD17):c.6388C>T (p.Pro2130Ser)	ANKRD17 (P1879S +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 3047211	NM_032217.5(ANKRD17):c.5935A>G (p.Thr1979Ala)	ANKRD17 (T1728A +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 3029112	NM_032217.5(ANKRD17):c.5911A>G (p.Thr1971Ala)	ANKRD17 (T1720A +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2629532	NM_032217.5(ANKRD17):c.5826G>C (p.Lys1942Asn)	ANKRD17 (K1691N +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2630761	NM_032217.5(ANKRD17):c.5824A>C (p.Lys1942Gln)	ANKRD17 (K1691Q +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2635573	NM_032217.5(ANKRD17):c.4543G>A (p.Ala1515Thr)	ANKRD17 (A1264T +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2635052	NM_032217.5(ANKRD17):c.4037T>C (p.Ile1346Thr)	ANKRD17 (I1095T +3 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 3034412	NM_032217.5(ANKRD17):c.3894G>A (p.Ala1298=)	ANKRD17	Single nucleotide variant (synonymous variant)	ANKRD17-related disorder	GLikely benign
Select item 3049462	NM_032217.5(ANKRD17):c.3504A>G (p.Leu1168=)	ANKRD17	Single nucleotide variant (synonymous variant)	ANKRD17-related disorder	GLikely benign
Select item 2634162	NM_032217.5(ANKRD17):c.2954T>C (p.Val985Ala)	ANKRD17 (V872A +1 more)	Single nucleotide variant (missense variant +1 more)	ANKRD17-related disorder	GUncertain significance
Select item 2629198	NM_032217.5(ANKRD17):c.2791C>A (p.Gln931Lys)	ANKRD17 (Q818K +1 more)	Single nucleotide variant (missense variant +1 more)	ANKRD17-related disorder	GUncertain significance
Select item 2632652	NM_032217.5(ANKRD17):c.2776T>G (p.Tyr926Asp)	ANKRD17 (Y813D +1 more)	Single nucleotide variant (missense variant +1 more)	ANKRD17-related disorder	GUncertain significance
Select item 2637320	NM_032217.5(ANKRD17):c.1934C>T (p.Thr645Ile)	ANKRD17 (T532I +1 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2631007	NM_032217.5(ANKRD17):c.1760G>A (p.Gly587Glu)	ANKRD17 (G474E +1 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 1801941	NM_032217.5(ANKRD17):c.1367G>C (p.Ser456Thr)	ANKRD17 (S343T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2631345	NM_032217.5(ANKRD17):c.1310C>A (p.Ala437Asp)	ANKRD17 (A324D +1 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 3035859	NM_032217.5(ANKRD17):c.705-5A>C	ANKRD17	Single nucleotide variant (intron variant)	ANKRD17-related disorder	GLikely benign
Select item 3046636	NM_032217.5(ANKRD17):c.498A>G (p.Thr166=)	ANKRD17	Single nucleotide variant (synonymous variant)	ANKRD17-related disorder	GLikely benign
Select item 2630429	NM_032217.5(ANKRD17):c.412G>C (p.Asp138His)	ANKRD17 (D138H +1 more)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2597394	NM_032217.5(ANKRD17):c.332C>T (p.Thr111Ile)	ANKRD17 (T111I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2629192	NM_032217.5(ANKRD17):c.309_320del (p.Gly107_Gly110del)	ANKRD17	Deletion (inframe_deletion)	ANKRD17-related disorder	GUncertain significance
Select item 3039467	NM_032217.5(ANKRD17):c.291CGGTGGAGGCGG[1] (p.Gly107_Gly110del)	ANKRD17	Microsatellite (inframe deletion)	ANKRD17-related disorder	GBenign
Select item 2631978	NM_032217.5(ANKRD17):c.245C>T (p.Pro82Leu)	ANKRD17 (P82L)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2628864	NM_032217.5(ANKRD17):c.154C>T (p.Arg52Cys)	ANKRD17, LOC129992670 (R52C)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance
Select item 2629373	NM_032217.5(ANKRD17):c.98C>G (p.Ala33Gly)	ANKRD17, LOC129992670 (A33G)	Single nucleotide variant (missense variant)	ANKRD17-related disorder	GUncertain significance

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Items: 29