ClinVar for Gene (Select 23678) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2603823	NM_001033578.3(SGK3):c.1115A>G (p.Asn372Ser)	C8orf44-SGK3, SGK3 (N372S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558813	NM_001033578.3(SGK3):c.1301C>A (p.Pro434Gln)	C8orf44-SGK3, SGK3 (P434Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494738	NM_001033578.3(SGK3):c.1340G>A (p.Arg447Lys)	C8orf44-SGK3, SGK3 (R447K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492708	NM_001033578.3(SGK3):c.1038C>G (p.Cys346Trp)	C8orf44-SGK3, SGK3 (C346W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469019	NM_001033578.3(SGK3):c.832C>A (p.His278Asn)	C8orf44-SGK3, SGK3 (H278N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459915	NM_001033578.3(SGK3):c.1408A>G (p.Ile470Val)	C8orf44-SGK3, SGK3 (I470V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443738	NM_001033578.3(SGK3):c.979-96T>A	C8orf44-SGK3, SGK3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2356270	NM_001033578.3(SGK3):c.286G>A (p.Glu96Lys)	C8orf44-SGK3, SGK3 (E96K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267536	NM_001033578.3(SGK3):c.611A>G (p.Gln204Arg)	SGK3, C8orf44-SGK3 (Q204R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263750	NM_001033578.3(SGK3):c.799G>A (p.Ala267Thr)	C8orf44-SGK3, SGK3 (A267T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808390	GRCh37/hg19 8q13.1-13.2(chr8:67642641-68406704)x1	ARFGEF1, C8orf44-SGK3 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1807954	GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1	ADHFE1, ARFGEF1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 1340337	GRCh37/hg19 8q13.1(chr8:67676966-67792479)x1	C8orf44-SGK3, MCMDC2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979237	GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3	PPP1R42, C8orf44-SGK3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815132	GRCh37/hg19 8q13.1-13.2(chr8:67718713-68020835)x3	TCF24, SNHG6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 686117	GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1	ADHFE1, ARMC1 +14 more	Copy number loss	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 161501	NM_001033578.3(SGK3):c.782A>G (p.His261Arg)	C8orf44-SGK3, SGK3 (H261R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	LOC130000405, LOC130000406 +489 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	SNHG6, SNORD87 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43