"PreventionGenetics, part of Exact Sciences"[submitter] AND "ARHGEF4"[ - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058950	NM_001367493.1(ARHGEF4):c.3615G>A (p.Ala1205=)	ARHGEF4	Single nucleotide variant (synonymous variant +1 more)	ARHGEF4-related disorder	GBenign
Select item 2212430	NM_001367493.1(ARHGEF4):c.3748G>A (p.Val1250Ile)	ARHGEF4 (V64I +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3051001	NM_001367493.1(ARHGEF4):c.3810C>T (p.His1270=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder	GLikely benign
Select item 3059424	NM_001367493.1(ARHGEF4):c.3811G>A (p.Val1271Ile)	ARHGEF4 (V100I +3 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GBenign
Select item 3048565	NM_001367493.1(ARHGEF4):c.3985G>A (p.Ala1329Thr)	ARHGEF4 (A106T +3 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GLikely benign
Select item 3044907	NM_001367493.1(ARHGEF4):c.3985+9C>T	ARHGEF4	Single nucleotide variant (intron variant)	ARHGEF4-related disorder	GLikely benign
Select item 721098	NM_001367493.1(ARHGEF4):c.4248G>A (p.Glu1416=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder +1 more	GBenign
Select item 722926	NM_001367493.1(ARHGEF4):c.4365A>G (p.Gly1455=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder +1 more	GLikely benign
Select item 3040604	NM_001367493.1(ARHGEF4):c.4422C>T (p.Val1474=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder	GLikely benign
Select item 3050579	NM_001367493.1(ARHGEF4):c.4611C>T (p.Phe1537=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder	GLikely benign
Select item 721099	NM_001367493.1(ARHGEF4):c.5025+8C>T	ARHGEF4	Single nucleotide variant (intron variant)	ARHGEF4-related disorder +1 more	GBenign
Select item 3055655	NM_001367493.1(ARHGEF4):c.5331C>T (p.Pro1777=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder	GBenign
Select item 3057837	NM_001367493.1(ARHGEF4):c.5479+6C>T	ARHGEF4	Single nucleotide variant (intron variant)	ARHGEF4-related disorder	GLikely benign
Select item 3033122	NM_001367493.1(ARHGEF4):c.5479+15G>C	ARHGEF4	Single nucleotide variant (intron variant)	ARHGEF4-related disorder	GLikely benign
Select item 3038443	NM_001367493.1(ARHGEF4):c.5489G>A (p.Arg1830Gln)	ARHGEF4 (R1830Q +7 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GBenign
Select item 3057984	NM_001367493.1(ARHGEF4):c.5506C>T (p.Arg1836Cys)	ARHGEF4 (R1836C +7 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GLikely benign
Select item 3040261	NM_001367493.1(ARHGEF4):c.5617C>T (p.Pro1873Ser)	ARHGEF4 (P1873S +7 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GBenign