"PreventionGenetics, part of Exact Sciences"[submitter] AND "ARHGAP24" - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046557	NM_001025616.3(ARHGAP24):c.165T>C (p.Asp55=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related disorder	GLikely benign
Select item 2896373	NM_001025616.3(ARHGAP24):c.391+10C>T	ARHGAP24	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3046102	NM_001025616.3(ARHGAP24):c.391+7160G>A	ARHGAP24	Single nucleotide variant (5 prime UTR variant +1 more)	ARHGAP24-related disorder	GLikely benign
Select item 224509	NM_001025616.3(ARHGAP24):c.473A>G (p.Gln158Arg)	ARHGAP24 (Q158R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2628716	NM_001025616.3(ARHGAP24):c.494A>C (p.Gln165Pro)	ARHGAP24 (Q165P +3 more)	Single nucleotide variant (missense variant +1 more)	ARHGAP24-related disorder	GUncertain significance
Select item 1632472	NM_001025616.3(ARHGAP24):c.525A>C (p.Arg175=)	ARHGAP24	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1989726	NM_001025616.3(ARHGAP24):c.615C>T (p.His205=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2047645	NM_001025616.3(ARHGAP24):c.621G>A (p.Val207=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2630114	NM_001025616.3(ARHGAP24):c.662C>T (p.Pro221Leu)	ARHGAP24 (P126L +4 more)	Single nucleotide variant (missense variant)	ARHGAP24-related disorder	GUncertain significance
Select item 3048353	NM_001025616.3(ARHGAP24):c.726G>A (p.Glu242=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related disorder	GLikely benign
Select item 1900515	NM_001025616.3(ARHGAP24):c.780T>C (p.Asn260=)	ARHGAP24	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2043879	NM_001025616.3(ARHGAP24):c.828C>T (p.Ser276=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related disorder +1 more	GBenign/Likely benign
Select item 2066725	NM_001025616.3(ARHGAP24):c.1025G>A (p.Gly342Glu)	ARHGAP24 (G149E +4 more)	Single nucleotide variant (missense variant)	ARHGAP24-related disorder +1 more	GLikely benign
Select item 2630846	NM_001025616.3(ARHGAP24):c.1039A>G (p.Asn347Asp)	ARHGAP24 (N154D +4 more)	Single nucleotide variant (missense variant)	ARHGAP24-related disorder	GUncertain significance
Select item 1321804	NM_001025616.3(ARHGAP24):c.1076A>G (p.Gln359Arg)	ARHGAP24 (Q166R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1303208	NM_001025616.3(ARHGAP24):c.1442C>T (p.Thr481Met)	ARHGAP24 (T288M +4 more)	Single nucleotide variant (missense variant)	ARHGAP24-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1416939	NM_001025616.3(ARHGAP24):c.1760A>T (p.Asn587Ile)	ARHGAP24 (N492I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3035951	NM_001025616.3(ARHGAP24):c.1761C>T (p.Asn587=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related disorder	GLikely benign
Select item 2063581	NM_001025616.3(ARHGAP24):c.1865G>A (p.Arg622His)	ARHGAP24 (R622H +4 more)	Single nucleotide variant (missense variant)	ARHGAP24-related disorder +1 more	GLikely benign
Select item 384542	NM_001025616.3(ARHGAP24):c.1916G>A (p.Ser639Asn)	ARHGAP24 (S639N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3047794	NM_001025616.3(ARHGAP24):c.2133C>T (p.Ala711=)	ARHGAP24	Single nucleotide variant (synonymous variant)	ARHGAP24-related disorder	GLikely benign

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Items: 21