ARHGEF15[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060195, LOC130060196 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	KCNAB3, LOC130060206 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 656292	NC_000017.10:g.(?_8215338)_(8224331_?)dup	ARHGEF15	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1645489	NM_173728.4(ARHGEF15):c.15C>T (p.Ser5=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2381846	NM_173728.4(ARHGEF15):c.16C>T (p.Leu6Phe)	ARHGEF15 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1398951	NM_173728.4(ARHGEF15):c.32C>T (p.Pro11Leu)	ARHGEF15 (P11L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1350040	NM_173728.4(ARHGEF15):c.34C>A (p.Pro12Thr)	ARHGEF15 (P12T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530538	NM_173728.4(ARHGEF15):c.34C>G (p.Pro12Ala)	ARHGEF15 (P12A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2873234	NM_173728.4(ARHGEF15):c.36C>T (p.Pro12=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1124827	NM_173728.4(ARHGEF15):c.36C>G (p.Pro12=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1437684	NM_173728.4(ARHGEF15):c.37A>C (p.Thr13Pro)	ARHGEF15 (T13P)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1448992	NM_173728.4(ARHGEF15):c.38C>T (p.Thr13Met)	ARHGEF15 (T13M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 648853	NM_173728.4(ARHGEF15):c.38C>G (p.Thr13Arg)	ARHGEF15 (T13R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530554	NM_173728.4(ARHGEF15):c.39G>A (p.Thr13=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 940399	NM_173728.4(ARHGEF15):c.52C>T (p.Arg18Trp)	ARHGEF15 (R18W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1021738	NM_173728.4(ARHGEF15):c.53G>A (p.Arg18Gln)	ARHGEF15 (R18Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530551	NM_173728.4(ARHGEF15):c.54G>A (p.Arg18=)	ARHGEF15	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1357381	NM_173728.4(ARHGEF15):c.61del (p.Arg21fs)	ARHGEF15 (R21fs)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 961909	NM_173728.4(ARHGEF15):c.61C>T (p.Arg21Cys)	ARHGEF15 (R21C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530493	NM_173728.4(ARHGEF15):c.62G>A (p.Arg21His)	ARHGEF15 (R21H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530617	NM_173728.4(ARHGEF15):c.63C>T (p.Arg21=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2211218	NM_173728.4(ARHGEF15):c.65C>T (p.Pro22Leu)	ARHGEF15 (P22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242022	NM_173728.4(ARHGEF15):c.67C>T (p.Arg23Cys)	ARHGEF15 (R23C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign
Select item 639737	NM_173728.4(ARHGEF15):c.68G>A (p.Arg23His)	ARHGEF15 (R23H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1493247	NM_173728.4(ARHGEF15):c.73C>T (p.Pro25Ser)	ARHGEF15 (P25S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1903115	NM_173728.4(ARHGEF15):c.79C>T (p.Arg27Cys)	ARHGEF15 (R27C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 461440	NM_173728.4(ARHGEF15):c.80G>A (p.Arg27His)	ARHGEF15 (R27H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	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 1945637	NM_173728.4(ARHGEF15):c.90T>C (p.Ala30=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 580808	NM_173728.4(ARHGEF15):c.91G>T (p.Ala31Ser)	ARHGEF15 (A31S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1378304	NM_173728.4(ARHGEF15):c.92C>T (p.Ala31Val)	ARHGEF15 (A31V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 582856	NM_173728.4(ARHGEF15):c.95A>G (p.Gln32Arg)	ARHGEF15 (Q32R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2782509	NM_173728.4(ARHGEF15):c.100C>T (p.Pro34Ser)	ARHGEF15 (P34S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2533845	NM_173728.4(ARHGEF15):c.100C>G (p.Pro34Ala)	ARHGEF15 (P34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1653165	NM_173728.4(ARHGEF15):c.108T>C (p.Pro36=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1461573	NM_173728.4(ARHGEF15):c.113A>G (p.His38Arg)	ARHGEF15 (H38R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1965778	NM_173728.4(ARHGEF15):c.123C>T (p.Ser41=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2761746	NM_173728.4(ARHGEF15):c.131A>G (p.Gln44Arg)	ARHGEF15 (Q44R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2011845	NM_173728.4(ARHGEF15):c.135A>G (p.Glu45=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 854385	NM_173728.4(ARHGEF15):c.142C>T (p.Arg48Ter)	ARHGEF15 (R48*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 653909	NM_173728.4(ARHGEF15):c.143G>A (p.Arg48Gln)	ARHGEF15 (R48Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2165144	NM_173728.4(ARHGEF15):c.174C>T (p.Cys58=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1037448	NM_173728.4(ARHGEF15):c.175A>T (p.Thr59Ser)	ARHGEF15 (T59S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1166287	NM_173728.4(ARHGEF15):c.177C>T (p.Thr59=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign
Select item 696441	NM_173728.4(ARHGEF15):c.178C>G (p.Pro60Ala)	ARHGEF15 (P60A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1906134	NM_173728.4(ARHGEF15):c.182T>A (p.Ile61Asn)	ARHGEF15 (I61N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1596589	NM_173728.4(ARHGEF15):c.183C>T (p.Ile61=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 958875	NM_173728.4(ARHGEF15):c.183C>G (p.Ile61Met)	ARHGEF15 (I61M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 575505	NM_173728.4(ARHGEF15):c.194C>T (p.Pro65Leu)	ARHGEF15 (P65L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 844009	NM_173728.4(ARHGEF15):c.197C>T (p.Pro66Leu)	ARHGEF15 (P66L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2011904	NM_173728.4(ARHGEF15):c.201T>G (p.Ala67=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 412678	NM_173728.4(ARHGEF15):c.204A>G (p.Ala68=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1512650	NM_173728.4(ARHGEF15):c.214C>T (p.Pro72Ser)	ARHGEF15 (P72S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 412670	NM_173728.4(ARHGEF15):c.217C>T (p.Pro73Ser)	ARHGEF15 (P73S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 2020832	NM_173728.4(ARHGEF15):c.222_223delinsAA (p.Leu75Ile)	ARHGEF15 (L75I)	Indel (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2810451	NM_173728.4(ARHGEF15):c.228G>A (p.Leu76=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 577013	NM_173728.4(ARHGEF15):c.232C>T (p.Pro78Ser)	ARHGEF15 (P78S)	Single nucleotide variant (missense variant)	ARHGEF15-related disorder +1 more	GUncertain significance
Select item 1563908	NM_173728.4(ARHGEF15):c.234C>T (p.Pro78=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 766209	NM_173728.4(ARHGEF15):c.249C>T (p.Ala83=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2876534	NM_173728.4(ARHGEF15):c.252C>T (p.Ser84=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2489080	NM_173728.4(ARHGEF15):c.253C>T (p.Leu85Phe)	ARHGEF15 (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 696800	NM_173728.4(ARHGEF15):c.255C>T (p.Leu85=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 695904	NM_173728.4(ARHGEF15):c.256G>A (p.Asp86Asn)	ARHGEF15 (D86N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 412668	NM_173728.4(ARHGEF15):c.267T>C (p.Thr89=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1348838	NM_173728.4(ARHGEF15):c.287G>T (p.Ser96Ile)	ARHGEF15 (S96I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1715175	NM_173728.4(ARHGEF15):c.292C>T (p.Pro98Ser)	ARHGEF15 (P98S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1151189	NM_173728.4(ARHGEF15):c.294C>T (p.Pro98=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2780413	NM_173728.4(ARHGEF15):c.309G>A (p.Val103=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 1486697	NM_173728.4(ARHGEF15):c.314G>A (p.Arg105Gln)	ARHGEF15 (R105Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1110630	NM_173728.4(ARHGEF15):c.315G>A (p.Arg105=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 434299	NM_173728.4(ARHGEF15):c.316C>T (p.Arg106Cys)	ARHGEF15 (R106C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 853748	NM_173728.4(ARHGEF15):c.317G>T (p.Arg106Leu)	ARHGEF15 (R106L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 412676	NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr)	ARHGEF15 (A108T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1023940	NM_173728.4(ARHGEF15):c.331G>C (p.Glu111Gln)	ARHGEF15 (E111Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 569183	NM_173728.4(ARHGEF15):c.340C>T (p.Pro114Ser)	ARHGEF15 (P114S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530458	NM_173728.4(ARHGEF15):c.343C>T (p.Arg115Trp)	ARHGEF15 (R115W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 643626	NM_173728.4(ARHGEF15):c.344G>A (p.Arg115Gln)	ARHGEF15 (R115Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2786346	NM_173728.4(ARHGEF15):c.345G>A (p.Arg115=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3005518	NM_173728.4(ARHGEF15):c.356C>A (p.Pro119His)	ARHGEF15 (P119H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2717466	NM_173728.4(ARHGEF15):c.357C>T (p.Pro119=)	ARHGEF15	Single nucleotide variant (synonymous variant)	ARHGEF15-related disorder +1 more	GLikely benign
Select item 2059112	NM_173728.4(ARHGEF15):c.359C>A (p.Pro120Gln)	ARHGEF15 (P120Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530426	NM_173728.4(ARHGEF15):c.359C>G (p.Pro120Arg)	ARHGEF15 (P120R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2046096	NM_173728.4(ARHGEF15):c.368C>T (p.Pro123Leu)	ARHGEF15 (P123L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1611954	NM_173728.4(ARHGEF15):c.375G>T (p.Gly125=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2766605	NM_173728.4(ARHGEF15):c.386C>A (p.Thr129Lys)	ARHGEF15 (T129K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 841185	NM_173728.4(ARHGEF15):c.386C>T (p.Thr129Met)	ARHGEF15 (T129M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1591770	NM_173728.4(ARHGEF15):c.387G>A (p.Thr129=)	ARHGEF15	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1057508	NM_173728.4(ARHGEF15):c.388C>G (p.Pro130Ala)	ARHGEF15 (P130A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 651683	NM_173728.4(ARHGEF15):c.398C>A (p.Pro133His)	ARHGEF15 (P133H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 412673	NM_173728.4(ARHGEF15):c.398C>T (p.Pro133Leu)	ARHGEF15 (P133L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 2001460	NM_173728.4(ARHGEF15):c.404C>G (p.Ala135Gly)	ARHGEF15 (A135G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 651273	NM_173728.4(ARHGEF15):c.406G>A (p.Gly136Arg)	ARHGEF15 (G136R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance

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