ARHGEF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 1451068	NM_004706.4(ARHGEF1):c.-20+1180T>A	ARHGEF1 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1367771	NM_004706.4(ARHGEF1):c.-20+1188C>T	ARHGEF1 (L4F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3129001	NM_004706.4(ARHGEF1):c.-20+1192C>G	ARHGEF1 (S5C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1169555	NM_004706.4(ARHGEF1):c.-20+1192C>A	ARHGEF1 (S5Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2891397	NM_004706.4(ARHGEF1):c.-20+1201G>A	ARHGEF1 (S8N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2876524	NM_004706.4(ARHGEF1):c.-20+1215C>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020148	NM_004706.4(ARHGEF1):c.-20+1215C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111859	NM_004706.4(ARHGEF1):c.-20+1217G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785720	NM_004706.4(ARHGEF1):c.-20+1220C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636774	NM_004706.4(ARHGEF1):c.-19-13C>G	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165766	NM_004706.4(ARHGEF1):c.-19-5T>C	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2096045	NM_004706.4(ARHGEF1):c.-19-4C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1050715	NM_004706.4(ARHGEF1):c.-17C>T	ARHGEF1 (P10L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2697380	NM_004706.4(ARHGEF1):c.-16T>C	ARHGEF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3023433	NM_004706.4(ARHGEF1):c.-14C>G	ARHGEF1 (A11G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1982844	NM_004706.4(ARHGEF1):c.-10G>A	ARHGEF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2113428	NM_004706.4(ARHGEF1):c.-3G>C	ARHGEF1 (E15Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2896933	NM_004706.4(ARHGEF1):c.-1G>C	ARHGEF1 (E15D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1649941	NM_004706.4(ARHGEF1):c.12C>T (p.Phe4=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480892	NM_004706.4(ARHGEF1):c.13G>A (p.Ala5Thr)	ARHGEF1 (A20T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060852	NM_004706.4(ARHGEF1):c.17G>A (p.Arg6Gln)	ARHGEF1 (R21Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1465275	NM_004706.4(ARHGEF1):c.17G>C (p.Arg6Pro)	ARHGEF1 (R6P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759430	NM_004706.4(ARHGEF1):c.20G>C (p.Gly7Ala)	ARHGEF1 (G7A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912081	NM_004706.4(ARHGEF1):c.23C>T (p.Ala8Val)	ARHGEF1 (A23V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1665008	NM_004706.4(ARHGEF1):c.24+12G>C	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982970	NM_004706.4(ARHGEF1):c.24+18G>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968494	NM_004706.4(ARHGEF1):c.24+19G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1641667	NM_004706.4(ARHGEF1):c.25-18T>C	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577442	NM_004706.4(ARHGEF1):c.25-15C>G	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837959	NM_004706.4(ARHGEF1):c.25-14C>G	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534672	NM_004706.4(ARHGEF1):c.25-10C>G	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1999832	NM_004706.4(ARHGEF1):c.25G>A (p.Ala9Thr)	ARHGEF1 (A9T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3129008	NM_004706.4(ARHGEF1):c.38C>T (p.Pro13Leu)	ARHGEF1 (P13L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129007	NM_004706.4(ARHGEF1):c.38C>G (p.Pro13Arg)	ARHGEF1 (P13R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1439194	NM_004706.4(ARHGEF1):c.43C>T (p.Arg15Trp)	ARHGEF1 (R15W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981070	NM_004706.4(ARHGEF1):c.44G>A (p.Arg15Gln)	ARHGEF1 (R15Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2875004	NM_004706.4(ARHGEF1):c.45G>T (p.Arg15=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1668708	NM_004706.4(ARHGEF1):c.52C>T (p.Leu18=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895013	NM_004706.4(ARHGEF1):c.54G>C (p.Leu18=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897589	NM_004706.4(ARHGEF1):c.55G>A (p.Val19Ile)	ARHGEF1 (V19I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511143	NM_004706.4(ARHGEF1):c.55G>C (p.Val19Leu)	ARHGEF1 (V19L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1455174	NM_004706.4(ARHGEF1):c.60C>T (p.Pro20=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250723	NM_004706.4(ARHGEF1):c.63C>A (p.Val21=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2991817	NM_004706.4(ARHGEF1):c.69C>A (p.Ile23=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1168808	NM_004706.4(ARHGEF1):c.72C>T (p.Ile24=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1136702	NM_004706.4(ARHGEF1):c.99C>T (p.Asn33=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655659	NM_004706.4(ARHGEF1):c.111+19G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528212	NM_004706.4(ARHGEF1):c.112-16C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1579312	NM_004706.4(ARHGEF1):c.112-12C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001786	NM_004706.4(ARHGEF1):c.112-3dup	ARHGEF1	Duplication (intron variant)	not provided	GBenign
Select item 2979444	NM_004706.4(ARHGEF1):c.112-4C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165413	NM_004706.4(ARHGEF1):c.112-4C>G	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2794766	NM_004706.4(ARHGEF1):c.123G>C (p.Glu41Asp)	ARHGEF1 (E56D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431777	NM_004706.4(ARHGEF1):c.130A>G (p.Ser44Gly)	ARHGEF1 (S44G +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 62	GUncertain significance
Select item 2783174	NM_004706.4(ARHGEF1):c.132C>A (p.Ser44Arg)	ARHGEF1 (S44R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1442306	NM_004706.4(ARHGEF1):c.144C>A (p.Ser48Arg)	ARHGEF1 (S63R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567239	NM_004706.4(ARHGEF1):c.159G>A (p.Lys53=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467685	NM_004706.4(ARHGEF1):c.160C>T (p.Arg54Trp)	ARHGEF1 (R54W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173687	NM_004706.4(ARHGEF1):c.161G>A (p.Arg54Gln)	ARHGEF1 (R69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1648851	NM_004706.4(ARHGEF1):c.162G>A (p.Arg54=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482989	NM_004706.4(ARHGEF1):c.164G>A (p.Arg55His)	ARHGEF1 (R55H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650324	NM_004706.4(ARHGEF1):c.165C>T (p.Arg55=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957141	NM_004706.4(ARHGEF1):c.174C>T (p.His58=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1381541	NM_004706.4(ARHGEF1):c.196G>A (p.Val66Met)	ARHGEF1 (V81M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648048	NM_004706.4(ARHGEF1):c.207G>A (p.Gln69=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589573	NM_004706.4(ARHGEF1):c.216A>G (p.Pro72=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1719542	NM_004706.4(ARHGEF1):c.218G>C (p.Gly73Ala)	ARHGEF1 (G73A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987170	NM_004706.4(ARHGEF1):c.220C>A (p.Pro74Thr)	ARHGEF1 (P74T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869943	NM_004706.4(ARHGEF1):c.221C>T (p.Pro74Leu)	ARHGEF1 (P74L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906317	NM_004706.4(ARHGEF1):c.221C>A (p.Pro74His)	ARHGEF1 (P89H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1664666	NM_004706.4(ARHGEF1):c.222C>T (p.Pro74=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414317	NM_004706.4(ARHGEF1):c.225+6G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2914530	NM_004706.4(ARHGEF1):c.225+7G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994950	NM_004706.4(ARHGEF1):c.225+9A>C	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537502	NM_004706.4(ARHGEF1):c.225+15G>C	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642610	NM_004706.4(ARHGEF1):c.225+16G>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955822	NM_004706.4(ARHGEF1):c.226-13G>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529495	NM_004706.4(ARHGEF1):c.226-9C>G	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965585	NM_004706.4(ARHGEF1):c.226-7C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978708	NM_004706.4(ARHGEF1):c.243C>T (p.Ala81=)	ARHGEF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3312600	NM_004706.4(ARHGEF1):c.244G>A (p.Asp82Asn)	ARHGEF1 (D82N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1943451	NM_004706.4(ARHGEF1):c.266C>T (p.Pro89Leu)	ARHGEF1 (P89L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1387100	NM_004706.4(ARHGEF1):c.287T>C (p.Phe96Ser)	ARHGEF1 (F111S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1534898	NM_004706.4(ARHGEF1):c.321A>G (p.Thr107=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2042281	NM_004706.4(ARHGEF1):c.324+13C>A	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038752	NM_004706.4(ARHGEF1):c.325-16TC[3]	ARHGEF1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1931249	NM_004706.4(ARHGEF1):c.325-16TC[2]	ARHGEF1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2020396	NM_004706.4(ARHGEF1):c.325-11C>T	ARHGEF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996748	NM_004706.4(ARHGEF1):c.325-8_325-7del	ARHGEF1	Deletion (intron variant)	not provided	GLikely benign
Select item 1363872	NM_004706.4(ARHGEF1):c.325G>A (p.Val109Ile)	ARHGEF1 (V76I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351075	NM_004706.4(ARHGEF1):c.329T>A (p.Leu110His)	ARHGEF1 (L77H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858926	NM_004706.4(ARHGEF1):c.330C>G (p.Leu110=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1933216	NM_004706.4(ARHGEF1):c.332G>A (p.Arg111Gln)	ARHGEF1 (R126Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999512	NM_004706.4(ARHGEF1):c.338C>T (p.Pro113Leu)	ARHGEF1 (P113L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055142	NM_004706.4(ARHGEF1):c.339G>A (p.Pro113=)	ARHGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1374014	NM_004706.4(ARHGEF1):c.350A>G (p.Asn117Ser)	ARHGEF1 (N132S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583348	NM_004706.4(ARHGEF1):c.351C>T (p.Asn117=)	ARHGEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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