"Ambry Genetics"[submitter] AND "ARHGEF15"[gene] - ClinVar

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

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2381846	NM_173728.4(ARHGEF15):c.16C>T (p.Leu6Phe)	ARHGEF15 (L6F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211218	NM_173728.4(ARHGEF15):c.65C>T (p.Pro22Leu)	ARHGEF15 (P22L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1398988	NM_173728.4(ARHGEF15):c.83C>T (p.Ser28Phe)	ARHGEF15 (S28F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2533845	NM_173728.4(ARHGEF15):c.100C>G (p.Pro34Ala)	ARHGEF15 (P34A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 696441	NM_173728.4(ARHGEF15):c.178C>G (p.Pro60Ala)	ARHGEF15 (P60A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2489080	NM_173728.4(ARHGEF15):c.253C>T (p.Leu85Phe)	ARHGEF15 (L85F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403967	NM_173728.4(ARHGEF15):c.266C>A (p.Thr89Asn)	ARHGEF15 (T89N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1016071	NM_173728.4(ARHGEF15):c.313C>T (p.Arg105Trp)	ARHGEF15 (R105W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 412676	NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr)	ARHGEF15 (A108T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 651273	NM_173728.4(ARHGEF15):c.406G>A (p.Gly136Arg)	ARHGEF15 (G136R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 855186	NM_173728.4(ARHGEF15):c.415G>A (p.Ala139Thr)	ARHGEF15 (A139T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 961906	NM_173728.4(ARHGEF15):c.452G>A (p.Arg151Gln)	ARHGEF15 (R151Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 403971	NM_173728.4(ARHGEF15):c.491G>A (p.Arg164Gln)	ARHGEF15 (R164Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 696113	NM_173728.4(ARHGEF15):c.652C>T (p.Arg218Trp)	ARHGEF15 (R218W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 939199	NM_173728.4(ARHGEF15):c.736A>G (p.Thr246Ala)	ARHGEF15 (T246A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 956960	NM_173728.4(ARHGEF15):c.754C>G (p.His252Asp)	ARHGEF15 (H252D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2204703	NM_173728.4(ARHGEF15):c.799C>T (p.Arg267Cys)	ARHGEF15 (R267C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304726	NM_173728.4(ARHGEF15):c.832C>T (p.Leu278Phe)	ARHGEF15 (L278F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288547	NM_173728.4(ARHGEF15):c.1126C>A (p.Pro376Thr)	ARHGEF15 (P376T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557845	NM_173728.4(ARHGEF15):c.1349G>A (p.Arg450Gln)	ARHGEF15 (R450Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 644747	NM_173728.4(ARHGEF15):c.1559C>G (p.Thr520Ser)	ARHGEF15 (T520S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1388112	NM_173728.4(ARHGEF15):c.1675C>G (p.Arg559Gly)	ARHGEF15 (R559G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1420221	NM_173728.4(ARHGEF15):c.1811G>A (p.Arg604His)	ARHGEF15 (R604H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2486293	NM_173728.4(ARHGEF15):c.1832T>G (p.Leu611Arg)	ARHGEF15 (L611R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606469	NM_173728.4(ARHGEF15):c.1918G>C (p.Glu640Gln)	ARHGEF15 (E640Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532342	NM_173728.4(ARHGEF15):c.2006A>G (p.Asp669Gly)	ARHGEF15 (D669G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207883	NM_173728.4(ARHGEF15):c.2041C>T (p.Arg681Trp)	ARHGEF15 (R681W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 646683	NM_173728.4(ARHGEF15):c.2042G>A (p.Arg681Gln)	ARHGEF15 (R681Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2395749	NM_173728.4(ARHGEF15):c.2153G>A (p.Arg718His)	ARHGEF15 (R718H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29