ARHGEF37[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 3129303	NM_001001669.3(ARHGEF37):c.77G>A (p.Arg26Lys)	ARHGEF37 (R26K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332927	NM_001001669.3(ARHGEF37):c.80C>T (p.Ser27Leu)	ARHGEF37 (S27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129305	NM_001001669.3(ARHGEF37):c.88C>T (p.His30Tyr)	ARHGEF37 (H30Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208975	NM_001001669.3(ARHGEF37):c.101C>G (p.Ala34Gly)	ARHGEF37 (A34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129292	NM_001001669.3(ARHGEF37):c.112C>T (p.Leu38Phe)	ARHGEF37 (L38F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129298	NM_001001669.3(ARHGEF37):c.175C>T (p.Arg59Cys)	ARHGEF37 (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509501	NM_001001669.3(ARHGEF37):c.191C>T (p.Pro64Leu)	ARHGEF37 (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332901	NM_001001669.3(ARHGEF37):c.196G>A (p.Gly66Arg)	ARHGEF37 (G66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361792	NM_001001669.3(ARHGEF37):c.283A>C (p.Lys95Gln)	ARHGEF37 (K95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472857	NM_001001669.3(ARHGEF37):c.316A>G (p.Ile106Val)	ARHGEF37 (I106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520245	NM_001001669.3(ARHGEF37):c.418G>A (p.Glu140Lys)	ARHGEF37 (E140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375563	NM_001001669.3(ARHGEF37):c.421C>G (p.Leu141Val)	ARHGEF37 (L141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129300	NM_001001669.3(ARHGEF37):c.646C>T (p.Arg216Cys)	ARHGEF37 (R216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204662	NM_001001669.3(ARHGEF37):c.647G>A (p.Arg216His)	ARHGEF37 (R216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129301	NM_001001669.3(ARHGEF37):c.669C>T (p.Tyr223=)	ARHGEF37, LOC129994963	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2598564	NM_001001669.3(ARHGEF37):c.676G>A (p.Val226Ile)	ARHGEF37, LOC129994963 (V226I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129302	NM_001001669.3(ARHGEF37):c.745C>T (p.Arg249Trp)	ARHGEF37, LOC129994963 (R249W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510840	NM_001001669.3(ARHGEF37):c.779T>G (p.Leu260Arg)	ARHGEF37, LOC129994963 (L260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491266	NM_001001669.3(ARHGEF37):c.799A>G (p.Lys267Glu)	ARHGEF37 (K267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129304	NM_001001669.3(ARHGEF37):c.803A>G (p.Glu268Gly)	ARHGEF37 (E268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655898	NM_001001669.3(ARHGEF37):c.918C>T (p.His306=)	ARHGEF37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2297260	NM_001001669.3(ARHGEF37):c.922T>C (p.Tyr308His)	ARHGEF37 (Y308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129306	NM_001001669.3(ARHGEF37):c.983A>C (p.His328Pro)	ARHGEF37 (H328P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474484	NM_001001669.3(ARHGEF37):c.1018G>A (p.Glu340Lys)	ARHGEF37 (E340K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129291	NM_001001669.3(ARHGEF37):c.1061T>C (p.Leu354Pro)	ARHGEF37 (L354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568487	NM_001001669.3(ARHGEF37):c.1091G>A (p.Arg364His)	ARHGEF37 (R364H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129293	NM_001001669.3(ARHGEF37):c.1130A>G (p.Lys377Arg)	ARHGEF37 (K377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313634	NM_001001669.3(ARHGEF37):c.1189G>C (p.Ala397Pro)	ARHGEF37 (A397P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129294	NM_001001669.3(ARHGEF37):c.1272C>G (p.Phe424Leu)	ARHGEF37 (F424L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614589	NM_001001669.3(ARHGEF37):c.1277C>T (p.Thr426Ile)	ARHGEF37 (T426I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129295	NM_001001669.3(ARHGEF37):c.1302A>C (p.Gln434His)	ARHGEF37 (Q434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360700	NM_001001669.3(ARHGEF37):c.1400C>T (p.Thr467Met)	ARHGEF37 (T467M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488691	NM_001001669.3(ARHGEF37):c.1460C>T (p.Thr487Ile)	ARHGEF37 (T487I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563117	NM_001001669.3(ARHGEF37):c.1486C>T (p.Arg496Cys)	ARHGEF37 (R496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129296	NM_001001669.3(ARHGEF37):c.1537G>A (p.Val513Met)	ARHGEF37 (V513M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315498	NM_001001669.3(ARHGEF37):c.1601C>G (p.Ala534Gly)	ARHGEF37 (A534G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129297	NM_001001669.3(ARHGEF37):c.1622C>G (p.Thr541Ser)	ARHGEF37 (T541S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483492	NM_001001669.3(ARHGEF37):c.1655C>G (p.Thr552Ser)	ARHGEF37 (T552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212288	NM_001001669.3(ARHGEF37):c.1665T>A (p.His555Gln)	ARHGEF37 (H555Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401784	NM_001001669.3(ARHGEF37):c.1712C>G (p.Pro571Arg)	ARHGEF37 (P571R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129299	NM_001001669.3(ARHGEF37):c.1760G>A (p.Arg587Gln)	ARHGEF37 (R587Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606127	NM_001001669.3(ARHGEF37):c.1814A>T (p.Asn605Ile)	ARHGEF37 (N605I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400315	NM_001001669.3(ARHGEF37):c.1829C>T (p.Ala610Val)	ARHGEF37, LOC126807550 (A610V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2655899	NM_001001669.3(ARHGEF37):c.1830G>A (p.Ala610=)	ARHGEF37, LOC126807550	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238020	NM_001001669.3(ARHGEF37):c.1841T>C (p.Val614Ala)	ARHGEF37, LOC126807550 (V614A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	not provided	GUncertain significance
Select item 1808574	GRCh37/hg19 5q32(chr5:147164969-149315489)x1	ABLIM3, ADRB2 +23 more	Copy number loss	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 814751	GRCh37/hg19 5q32(chr5:148953230-149414017)x3	ARHGEF37, MIR378A +5 more	Copy number gain	not provided	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CDC25C, CDC42SE2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 61