"PreventionGenetics, part of Exact Sciences"[submitter] AND "ANKZF1"[g - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1166589	NM_018089.3(ANKZF1):c.173A>C (p.Glu58Ala)	ANKZF1 (E58A)	Single nucleotide variant (missense variant +1 more)	ANKZF1-related disorder +1 more	GBenign
Select item 769267	NM_018089.3(ANKZF1):c.177A>C (p.Arg59Ser)	ANKZF1 (R59S)	Single nucleotide variant (missense variant +1 more)	ANKZF1-related disorder +1 more	GBenign
Select item 1625171	NM_018089.3(ANKZF1):c.180G>A (p.Lys60=)	ANKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1089743	NM_018089.3(ANKZF1):c.249CCA[1] (p.His84del)	ANKZF1 (H84del)	Microsatellite (inframe_deletion +1 more)	ANKZF1-related disorder +1 more	GLikely benign
Select item 1153204	NM_018089.3(ANKZF1):c.256G>A (p.Glu86Lys)	ANKZF1 (E86K)	Single nucleotide variant (missense variant +1 more)	ANKZF1-related disorder +1 more	GLikely benign
Select item 1167466	NM_018089.3(ANKZF1):c.410G>C (p.Ser137Thr)	ANKZF1 (S137T)	Single nucleotide variant (missense variant +1 more)	ANKZF1-related disorder +1 more	GBenign
Select item 780100	NM_018089.3(ANKZF1):c.439G>A (p.Glu147Lys)	ANKZF1 (E147K)	Single nucleotide variant (missense variant +1 more)	ANKZF1-related disorder +1 more	GBenign
Select item 2635374	NM_018089.3(ANKZF1):c.659C>G (p.Ala220Gly)	ANKZF1 (A10G +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder	GUncertain significance
Select item 3057795	NM_018089.3(ANKZF1):c.716G>A (p.Arg239Gln)	ANKZF1 (R239Q +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder	GUncertain significance
Select item 2631469	NM_018089.3(ANKZF1):c.842G>C (p.Gly281Ala)	ANKZF1 (G281A +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder	GUncertain significance
Select item 2636411	NM_018089.3(ANKZF1):c.877A>G (p.Thr293Ala)	ANKZF1 (T293A +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder	GUncertain significance
Select item 1169354	NM_018089.3(ANKZF1):c.889C>T (p.Arg297Cys)	ANKZF1 (R297C +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder +1 more	GBenign
Select item 2062631	NM_018089.3(ANKZF1):c.986G>A (p.Arg329His)	ANKZF1 (R119H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2086380	NM_018089.3(ANKZF1):c.1045T>C (p.Tyr349His)	ANKZF1 (Y139H +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder +1 more	GUncertain significance
Select item 1164833	NM_018089.3(ANKZF1):c.1049-6T>C	ANKZF1	Single nucleotide variant (intron variant)	ANKZF1-related disorder +1 more	GBenign/Likely benign
Select item 718932	NM_018089.3(ANKZF1):c.1107A>C (p.Val369=)	ANKZF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3029643	NM_018089.3(ANKZF1):c.1108A>C (p.Arg370=)	ANKZF1	Single nucleotide variant (synonymous variant)	ANKZF1-related disorder	GLikely benign
Select item 3061558	NM_018089.3(ANKZF1):c.1177G>C (p.Gly393Arg)	ANKZF1 (G183R +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder	GUncertain significance
Select item 3049879	NM_018089.3(ANKZF1):c.1237G>T (p.Val413Leu)	ANKZF1 (V203L +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder	GUncertain significance
Select item 780101	NM_018089.3(ANKZF1):c.1370C>T (p.Thr457Ile)	ANKZF1 (T457I +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder +1 more	GBenign
Select item 1442265	NM_018089.3(ANKZF1):c.1536_1545del (p.Gln513fs)	ANKZF1 (Q513fs +1 more)	Deletion (frameshift variant)	ANKZF1-related disorder +1 more	GUncertain significance
Select item 2419492	NM_018089.3(ANKZF1):c.1581C>T (p.Leu527=)	ANKZF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1981225	NM_018089.3(ANKZF1):c.1697_1719del (p.Ser566fs)	ANKZF1 (S356fs +1 more)	Deletion (frameshift variant)	ANKZF1-related disorder +1 more	GUncertain significance
Select item 1168843	NM_018089.3(ANKZF1):c.1697C>G (p.Ser566Cys)	ANKZF1 (S356C +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder +1 more	GBenign
Select item 775821	NM_018089.3(ANKZF1):c.1708C>T (p.Pro570Ser)	ANKZF1 (P360S +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder +1 more	GBenign
Select item 1164551	NM_018089.3(ANKZF1):c.1725G>A (p.Ala575=)	ANKZF1	Single nucleotide variant (synonymous variant)	ANKZF1-related disorder +1 more	GBenign
Select item 1164413	NM_018089.3(ANKZF1):c.1754G>A (p.Arg585Gln)	ANKZF1 (R375Q +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder +1 more	GBenign/Likely benign
Select item 1017437	NM_018089.3(ANKZF1):c.1763T>C (p.Met588Thr)	ANKZF1 (M378T +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 709765	NM_018089.3(ANKZF1):c.1850G>A (p.Arg617Gln)	ANKZF1 (R617Q +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder +1 more	GBenign/Likely benign
Select item 1168702	NM_018089.3(ANKZF1):c.1906CAGGAG[1] (p.636QE[1])	ANKZF1	Microsatellite (inframe_deletion)	ANKZF1-related disorder +1 more	GBenign
Select item 1450595	NM_018089.3(ANKZF1):c.1906del (p.Gln636fs)	ANKZF1 (Q426fs +1 more)	Deletion (frameshift variant)	ANKZF1-related disorder +1 more	GUncertain significance
Select item 1164874	NM_018089.3(ANKZF1):c.1927C>A (p.Arg643=)	ANKZF1	Single nucleotide variant (synonymous variant)	ANKZF1-related disorder +1 more	GBenign
Select item 1538900	NM_018089.3(ANKZF1):c.1962C>T (p.Asp654=)	ANKZF1	Single nucleotide variant (synonymous variant)	ANKZF1-related disorder +1 more	GBenign/Likely benign
Select item 2033878	NM_018089.3(ANKZF1):c.1993C>T (p.Arg665Ter)	ANKZF1 (R665* +1 more)	Single nucleotide variant (nonsense)	ANKZF1-related disorder +1 more	GUncertain significance
Select item 1170465	NM_018089.3(ANKZF1):c.2027C>T (p.Pro676Leu)	ANKZF1 (P466L +1 more)	Single nucleotide variant (missense variant)	ANKZF1-related disorder +1 more	GBenign
Select item 1137322	NM_018089.3(ANKZF1):c.2057+5G>A	ANKZF1	Single nucleotide variant (intron variant)	ANKZF1-related disorder +1 more	GLikely benign

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Items: 36