Related gene-specific medical variations for Gene (Select 100287837) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313354	NM_014786.4(ARHGEF17):c.50A>C (p.Lys17Thr)	ARHGEF17, ARHGEF17-AS1 (K17T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313314	NM_014786.4(ARHGEF17):c.616C>T (p.Arg206Trp)	ARHGEF17, ARHGEF17-AS1 (R206W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313282	NM_014786.4(ARHGEF17):c.341C>A (p.Ala114Glu)	ARHGEF17, ARHGEF17-AS1 (A114E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313272	NM_014786.4(ARHGEF17):c.340G>T (p.Ala114Ser)	ARHGEF17, ARHGEF17-AS1 (A114S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313261	NM_014786.4(ARHGEF17):c.296C>T (p.Ala99Val)	ARHGEF17, ARHGEF17-AS1 (A99V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313196	NM_014786.4(ARHGEF17):c.588G>C (p.Arg196Ser)	ARHGEF17, ARHGEF17-AS1 (R196S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129161	NM_014786.4(ARHGEF17):c.676G>A (p.Gly226Arg)	ARHGEF17, ARHGEF17-AS1 (G226R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129155	NM_014786.4(ARHGEF17):c.538G>A (p.Ala180Thr)	ARHGEF17, ARHGEF17-AS1 (A180T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129148	NM_014786.4(ARHGEF17):c.44C>T (p.Ser15Leu)	ARHGEF17, ARHGEF17-AS1 (S15L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129130	NM_014786.4(ARHGEF17):c.260G>A (p.Arg87Gln)	ARHGEF17, ARHGEF17-AS1 (R87Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129129	NM_014786.4(ARHGEF17):c.239C>T (p.Pro80Leu)	ARHGEF17, ARHGEF17-AS1 (P80L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129126	NM_014786.4(ARHGEF17):c.214C>T (p.Pro72Ser)	ARHGEF17, ARHGEF17-AS1 (P72S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129123	NM_014786.4(ARHGEF17):c.200C>A (p.Ala67Asp)	ARHGEF17, ARHGEF17-AS1 (A67D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2642135	NM_014786.4(ARHGEF17):c.525A>C (p.Thr175=)	ARHGEF17, ARHGEF17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2642134	NM_014786.4(ARHGEF17):c.24C>G (p.Pro8=)	ARHGEF17, ARHGEF17-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605240	NM_014786.4(ARHGEF17):c.478C>A (p.Pro160Thr)	ARHGEF17, ARHGEF17-AS1 (P160T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2594880	NM_014786.4(ARHGEF17):c.232C>T (p.Leu78Phe)	ARHGEF17, ARHGEF17-AS1 (L78F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2591543	NM_014786.4(ARHGEF17):c.484G>C (p.Ala162Pro)	ARHGEF17, ARHGEF17-AS1 (A162P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527268	NM_014786.4(ARHGEF17):c.121C>T (p.Arg41Cys)	ARHGEF17, ARHGEF17-AS1 (R41C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2525812	NM_014786.4(ARHGEF17):c.660C>G (p.Phe220Leu)	ARHGEF17, ARHGEF17-AS1 (F220L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2483706	NM_014786.4(ARHGEF17):c.373A>C (p.Ser125Arg)	ARHGEF17, ARHGEF17-AS1 (S125R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2391105	NM_014786.4(ARHGEF17):c.130T>A (p.Cys44Ser)	ARHGEF17, ARHGEF17-AS1 (C44S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2353140	NM_014786.4(ARHGEF17):c.95A>G (p.Asp32Gly)	ARHGEF17, ARHGEF17-AS1 (D32G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2340321	NM_014786.4(ARHGEF17):c.455G>A (p.Ser152Asn)	ARHGEF17, ARHGEF17-AS1 (S152N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305299	NM_014786.4(ARHGEF17):c.709G>A (p.Ala237Thr)	ARHGEF17, ARHGEF17-AS1 (A237T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2299670	NM_014786.4(ARHGEF17):c.202G>A (p.Ala68Thr)	ARHGEF17, ARHGEF17-AS1 (A68T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2276077	NM_014786.4(ARHGEF17):c.417G>C (p.Arg139Ser)	ARHGEF17, ARHGEF17-AS1 (R139S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 779306	NM_014786.4(ARHGEF17):c.716C>A (p.Ser239Tyr)	ARHGEF17, ARHGEF17-AS1 (S239Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28