SUPV3L1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 2487275	NM_003171.5(SUPV3L1):c.13C>G (p.Arg5Gly)	LOC130003975, SUPV3L1 (R5G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2640543	NM_003171.5(SUPV3L1):c.99G>A (p.Gly33=)	SUPV3L1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2287762	NM_003171.5(SUPV3L1):c.127T>G (p.Ser43Ala)	SUPV3L1 (S43A)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2288643	NM_003171.5(SUPV3L1):c.170A>G (p.Lys57Arg)	SUPV3L1 (K57R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2365654	NM_003171.5(SUPV3L1):c.197C>T (p.Pro66Leu)	SUPV3L1 (P66L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2382327	NM_003171.5(SUPV3L1):c.217G>A (p.Gly73Ser)	SUPV3L1 (G73S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2316785	NM_003171.5(SUPV3L1):c.386A>C (p.Asn129Thr)	SUPV3L1 (N129T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468551	NM_003171.5(SUPV3L1):c.481T>A (p.Phe161Ile)	SUPV3L1 (F161I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2398805	NM_003171.5(SUPV3L1):c.505A>G (p.Ile169Val)	SUPV3L1 (I38V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2351591	NM_003171.5(SUPV3L1):c.538C>T (p.Arg180Cys)	SUPV3L1 (R49C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2391113	NM_003171.5(SUPV3L1):c.671C>A (p.Ala224Glu)	SUPV3L1 (A103E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2277178	NM_003171.5(SUPV3L1):c.733A>G (p.Asn245Asp)	SUPV3L1 (N124D +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2241060	NM_003171.5(SUPV3L1):c.845C>G (p.Thr282Arg)	SUPV3L1 (T151R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2367072	NM_003171.5(SUPV3L1):c.1006A>G (p.Thr336Ala)	SUPV3L1 (T205A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407391	NM_003171.5(SUPV3L1):c.1034A>G (p.Tyr345Cys)	SUPV3L1 (Y214C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524517	NM_003171.5(SUPV3L1):c.1094G>A (p.Arg365Gln)	SUPV3L1 (R234Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237249	NM_003171.5(SUPV3L1):c.1147C>T (p.Arg383Trp)	SUPV3L1 (R262W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544697	NM_003171.5(SUPV3L1):c.1244A>G (p.Asn415Ser)	SUPV3L1 (N415S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341168	NM_003171.5(SUPV3L1):c.1279A>G (p.Ile427Val)	SUPV3L1 (I296V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598544	NM_003171.5(SUPV3L1):c.1423A>G (p.Ser475Gly)	SUPV3L1 (S354G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235419	NM_003171.5(SUPV3L1):c.1447G>A (p.Val483Ile)	SUPV3L1 (V362I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552284	NM_003171.5(SUPV3L1):c.1465G>C (p.Glu489Gln)	SUPV3L1 (E160Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612829	NM_003171.5(SUPV3L1):c.1972C>G (p.Leu658Val)	SUPV3L1 (L527V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329135	NM_003171.5(SUPV3L1):c.2006G>A (p.Gly669Asp)	SUPV3L1 (G340D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496383	NM_003171.5(SUPV3L1):c.2099C>T (p.Ser700Leu)	SUPV3L1 (S569L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403953	NM_003171.5(SUPV3L1):c.2132G>A (p.Arg711His)	SUPV3L1 (R590H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374147	NM_003171.5(SUPV3L1):c.2183C>A (p.Ala728Glu)	SUPV3L1 (A399E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic

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Items: 42