25968[HGNC] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 3313857	NM_001242729.2(ARHGEF38):c.14A>G (p.Glu5Gly)	ARHGEF38 (E5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552197	NM_001242729.2(ARHGEF38):c.53A>G (p.Asn18Ser)	ARHGEF38 (N18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398533	NM_001242729.2(ARHGEF38):c.69G>T (p.Arg23Ser)	ARHGEF38 (R23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556917	NM_001242729.2(ARHGEF38):c.221G>T (p.Cys74Phe)	ARHGEF38 (C74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623576	NM_001242729.2(ARHGEF38):c.235A>T (p.Thr79Ser)	ARHGEF38 (T79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243537	NM_001242729.2(ARHGEF38):c.290A>C (p.Lys97Thr)	ARHGEF38 (K97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324726	NM_001242729.2(ARHGEF38):c.332A>G (p.Asn111Ser)	ARHGEF38 (N111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263647	NM_001242729.2(ARHGEF38):c.430G>A (p.Val144Met)	ARHGEF38 (V144M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129314	NM_001242729.2(ARHGEF38):c.479C>T (p.Thr160Ile)	ARHGEF38 (T160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367266	NM_001242729.2(ARHGEF38):c.572A>G (p.His191Arg)	ARHGEF38 (H191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350811	NM_001242729.2(ARHGEF38):c.617A>G (p.Glu206Gly)	ARHGEF38 (E206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526890	NM_001242729.2(ARHGEF38):c.643A>G (p.Ile215Val)	ARHGEF38 (I215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462567	NM_001242729.2(ARHGEF38):c.710T>C (p.Met237Thr)	ARHGEF38 (M237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129316	NM_001242729.2(ARHGEF38):c.711G>A (p.Met237Ile)	ARHGEF38 (M237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129317	NM_001242729.2(ARHGEF38):c.757G>A (p.Glu253Lys)	ARHGEF38 (E253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377952	NM_001242729.2(ARHGEF38):c.763C>T (p.Arg255Trp)	ARHGEF38 (R255W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313844	NM_001242729.2(ARHGEF38):c.844A>G (p.Ile282Val)	ARHGEF38 (I282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129318	NM_001242729.2(ARHGEF38):c.867A>C (p.Lys289Asn)	ARHGEF38 (K289N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655002	NM_001242729.2(ARHGEF38):c.979C>T (p.Leu327=)	ARHGEF38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242468	NM_001242729.2(ARHGEF38):c.1019A>G (p.Asn340Ser)	ARHGEF38 (N340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313833	NM_001242729.2(ARHGEF38):c.1090T>C (p.Ser364Pro)	ARHGEF38 (S364P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609847	NM_001242729.2(ARHGEF38):c.1103A>G (p.Gln368Arg)	ARHGEF38 (Q368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129307	NM_001242729.2(ARHGEF38):c.1175A>T (p.Asp392Val)	ARHGEF38 (D392V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459599	NM_001242729.2(ARHGEF38):c.1177G>A (p.Asp393Asn)	ARHGEF38 (D393N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274936	NM_001242729.2(ARHGEF38):c.1190A>G (p.Tyr397Cys)	ARHGEF38 (Y397C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380869	NM_001242729.2(ARHGEF38):c.1210G>A (p.Ala404Thr)	ARHGEF38 (A404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129308	NM_001242729.2(ARHGEF38):c.1253T>A (p.Leu418His)	ARHGEF38 (L418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291931	NM_001242729.2(ARHGEF38):c.1280T>C (p.Leu427Pro)	ARHGEF38 (L427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313824	NM_001242729.2(ARHGEF38):c.1294G>A (p.Gly432Arg)	ARHGEF38 (G432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245774	NM_001242729.2(ARHGEF38):c.1358G>A (p.Arg453Gln)	ARHGEF38 (R453Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253577	NM_001242729.2(ARHGEF38):c.1364C>T (p.Thr455Met)	ARHGEF38 (T455M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129309	NM_001242729.2(ARHGEF38):c.1379A>T (p.Asp460Val)	ARHGEF38 (D460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228104	NM_001242729.2(ARHGEF38):c.1396T>A (p.Tyr466Asn)	ARHGEF38 (Y466N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602934	NM_001242729.2(ARHGEF38):c.1410C>A (p.Asn470Lys)	ARHGEF38 (N470K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129310	NM_001242729.2(ARHGEF38):c.1450G>A (p.Ala484Thr)	ARHGEF38 (A484T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129311	NM_001242729.2(ARHGEF38):c.1589T>G (p.Val530Gly)	ARHGEF38 (V530G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263421	NM_001242729.2(ARHGEF38):c.1633G>A (p.Ala545Thr)	ARHGEF38 (A545T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604542	NM_001242729.2(ARHGEF38):c.1804A>C (p.Asn602His)	ARHGEF38 (N602H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520307	NM_001242729.2(ARHGEF38):c.1928A>G (p.Tyr643Cys)	ARHGEF38 (Y643C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129312	NM_001242729.2(ARHGEF38):c.1958C>G (p.Ala653Gly)	ARHGEF38 (A653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286133	NM_001242729.2(ARHGEF38):c.1972T>C (p.Cys658Arg)	ARHGEF38 (C658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287263	NM_001242729.2(ARHGEF38):c.1978G>A (p.Asp660Asn)	ARHGEF38 (D660N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129313	NM_001242729.2(ARHGEF38):c.2015G>A (p.Arg672Gln)	ARHGEF38 (R672Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268836	NM_001242729.2(ARHGEF38):c.2183G>A (p.Ser728Asn)	ARHGEF38 (S728N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2445492	NC_000004.11:g.(?_101947022)_(107268849_?)dup	SLC39A8, TBCK +19 more	Duplication	not provided	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 686613	GRCh37/hg19 4q24(chr4:106262887-106663541)x3	ARHGEF38, GSTCD +2 more	Copy number gain	not provided	GUncertain significance
Select item 562953	GRCh37/hg19 4q24-25(chr4:106582279-108557118)x1	NPNT, DKK2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 562952	GRCh37/hg19 4q24(chr4:106507186-106882078)x3	NPNT, INTS12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 60