"Clinical Genetics, Academic Medical Center"[submitter] AND "ARHGEF28" - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257365	NM_001177693.2(ARHGEF28):c.267G>A (p.Val89=)	ARHGEF28	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 257376	NM_001177693.2(ARHGEF28):c.673T>C (p.Trp225Arg)	ARHGEF28 (W225R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 257377	NM_001177693.2(ARHGEF28):c.823A>C (p.Arg275=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 257378	NM_001177693.2(ARHGEF28):c.851C>A (p.Pro284Gln)	ARHGEF28 (P284Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 257379	NM_001177693.2(ARHGEF28):c.945T>C (p.Ala315=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 257380	NM_001177693.2(ARHGEF28):c.964-7C>T	ARHGEF28	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 257357	NM_001177693.2(ARHGEF28):c.1024+12C>T	ARHGEF28	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 257358	NM_001177693.2(ARHGEF28):c.1631C>T (p.Ser544Leu)	ARHGEF28 (S544L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 257359	NM_001177693.2(ARHGEF28):c.1680A>G (p.Ser560=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 257360	NM_001177693.2(ARHGEF28):c.1754G>A (p.Arg585Lys)	ARHGEF28 (R585K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 257362	NM_001177693.2(ARHGEF28):c.2283C>T (p.Gly761=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 257363	NM_001177693.2(ARHGEF28):c.2297+16=	ARHGEF28	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 257364	NM_001177693.2(ARHGEF28):c.2338C>A (p.His780Asn)	ARHGEF28 (H780N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 257366	NM_001177693.2(ARHGEF28):c.3018C>T (p.Tyr1006=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 257368	NM_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 257370	NM_001177693.2(ARHGEF28):c.4054G>A (p.Val1352Ile)	ARHGEF28 (V1352I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1210026	NM_001177693.2(ARHGEF28):c.4161+16T>C	ARHGEF28	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 257371	NM_001177693.2(ARHGEF28):c.4388G>A (p.Arg1463Gln)	ARHGEF28 (R1463Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 257372	NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly)	ARHGEF28 (A1541G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 257373	NM_001177693.2(ARHGEF28):c.4642C>T (p.Pro1548Ser)	ARHGEF28 (P1548S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 778193	NM_001177693.2(ARHGEF28):c.4887C>G (p.Ala1629=)	ARHGEF28	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 257374	NM_001177693.2(ARHGEF28):c.4920T>A (p.His1640Gln)	ARHGEF28 (H1640Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 257375	NM_001177693.2(ARHGEF28):c.4948+11554C>T	ARHGEF28 (P1664L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign

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Items: 23