SCYL2[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 59817	GRCh38/hg38 12q23.1(chr12:100078579-100273980)x3	ACTR6, BLTP3B +16 more	Copy number gain	See cases	GPathogenic
Select item 1308643	NM_017988.6(SCYL2):c.97del (p.Asp33fs)	SCYL2 (D33fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	GLikely pathogenic
Select item 3158825	NM_017988.6(SCYL2):c.104G>T (p.Gly35Val)	SCYL2 (G35V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 810843	NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter)	SCYL2 (R36*)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	GPathogenic
Select item 3158826	NM_017988.6(SCYL2):c.112A>G (p.Ile38Val)	SCYL2 (I38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279676	NM_017988.6(SCYL2):c.121G>A (p.Gly41Ser)	SCYL2 (G41S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371685	NM_017988.6(SCYL2):c.128A>G (p.Asn43Ser)	SCYL2 (N43S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1308644	NM_017988.6(SCYL2):c.176dup (p.Glu60fs)	SCYL2 (E60fs)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	GLikely pathogenic
Select item 3316763	NM_017988.6(SCYL2):c.176A>G (p.Gln59Arg)	SCYL2 (Q59R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1332927	NM_017988.6(SCYL2):c.177+35C>A	SCYL2	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum +1 more	GBenign
Select item 2445467	NM_017988.6(SCYL2):c.214_234del (p.Asp72_Glu78del)	SCYL2	Deletion (inframe_deletion +1 more)	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	GPathogenic
Select item 2288887	NM_017988.6(SCYL2):c.298C>T (p.Arg100Ter)	SCYL2 (R100*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2690938	NM_017988.6(SCYL2):c.446T>C (p.Leu149Pro)	SCYL2 (L149P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2299794	NM_017988.6(SCYL2):c.529G>A (p.Gly177Arg)	SCYL2 (G4R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316756	NM_017988.6(SCYL2):c.544G>C (p.Glu182Gln)	SCYL2 (E9Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328808	NM_017988.6(SCYL2):c.571G>A (p.Ala191Thr)	SCYL2 (A191T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2671711	NM_017988.6(SCYL2):c.598dup (p.Cys200fs)	SCYL2 (C200fs +1 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	GLikely pathogenic
Select item 3316759	NM_017988.6(SCYL2):c.624A>T (p.Glu208Asp)	SCYL2 (E208D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643229	NM_017988.6(SCYL2):c.666A>G (p.Leu222=)	SCYL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2687783	NM_017988.6(SCYL2):c.718T>G (p.Ser240Ala)	SCYL2 (S240A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2543355	NM_017988.6(SCYL2):c.746T>C (p.Met249Thr)	SCYL2 (M76T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158835	NM_017988.6(SCYL2):c.751T>G (p.Ser251Ala)	SCYL2 (S78A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158836	NM_017988.6(SCYL2):c.859C>T (p.Arg287Cys)	SCYL2 (R287C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477722	NM_017988.6(SCYL2):c.860G>A (p.Arg287His)	SCYL2 (R114H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390508	NM_017988.6(SCYL2):c.901C>T (p.Arg301Cys)	SCYL2 (R128C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158837	NM_017988.6(SCYL2):c.902G>A (p.Arg301His)	SCYL2 (R301H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479366	NM_017988.6(SCYL2):c.926A>G (p.Asn309Ser)	SCYL2 (N136S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316761	NM_017988.6(SCYL2):c.938C>A (p.Thr313Asn)	SCYL2 (T140N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051711	NM_017988.6(SCYL2):c.961A>G (p.Met321Val)	SCYL2 (M148V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316758	NM_017988.6(SCYL2):c.1054T>C (p.Phe352Leu)	SCYL2 (F179L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1332928	NM_017988.6(SCYL2):c.1096-23T>A	SCYL2	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum +1 more	GBenign
Select item 3316762	NM_017988.6(SCYL2):c.1105G>T (p.Val369Leu)	SCYL2 (V196L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608060	NM_017988.6(SCYL2):c.1150G>A (p.Asp384Asn)	SCYL2 (D211N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316764	NM_017988.6(SCYL2):c.1163T>C (p.Phe388Ser)	SCYL2 (F388S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158827	NM_017988.6(SCYL2):c.1229T>G (p.Leu410Arg)	SCYL2 (L237R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030556	NM_017988.6(SCYL2):c.1273-104G>A	SCYL2	Single nucleotide variant (intron variant)	SCYL2-related disorder	GLikely benign
Select item 2269765	NM_017988.6(SCYL2):c.1396-5T>C	SCYL2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2530310	NM_017988.6(SCYL2):c.1427C>T (p.Ala476Val)	SCYL2 (A480V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229601	NM_017988.6(SCYL2):c.1508C>T (p.Ala503Val)	SCYL2 (A503V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158828	NM_017988.6(SCYL2):c.1513C>T (p.Arg505Cys)	SCYL2 (R509C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570568	NM_017988.6(SCYL2):c.1514G>A (p.Arg505His)	SCYL2 (R336H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 810844	NM_017988.6(SCYL2):c.1624dup (p.Val542fs)	SCYL2 (V373fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	GPathogenic
Select item 3049145	NM_017988.6(SCYL2):c.1629C>T (p.Leu543=)	SCYL2	Single nucleotide variant (synonymous variant)	SCYL2-related disorder	GLikely benign
Select item 2326033	NM_017988.6(SCYL2):c.1736T>C (p.Ile579Thr)	SCYL2 (I579T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370927	NM_017988.6(SCYL2):c.1780G>A (p.Val594Ile)	SCYL2 (V425I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214902	NM_017988.6(SCYL2):c.1817A>G (p.His606Arg)	SCYL2 (H606R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411778	NM_017988.6(SCYL2):c.1844T>C (p.Ile615Thr)	SCYL2 (I615T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158830	NM_017988.6(SCYL2):c.1845A>G (p.Ile615Met)	SCYL2 (I619M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227937	NM_017988.6(SCYL2):c.1856A>G (p.Gln619Arg)	SCYL2 (Q450R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643230	NM_017988.6(SCYL2):c.1987G>A (p.Glu663Lys)	SCYL2 (E494K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2333785	NM_017988.6(SCYL2):c.2032C>T (p.Leu678Phe)	SCYL2 (L509F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349565	NM_017988.6(SCYL2):c.2140A>G (p.Lys714Glu)	SCYL2 (K545E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3353240	NM_017988.6(SCYL2):c.2145+4A>G	SCYL2	Single nucleotide variant (intron variant)	SCYL2-related disorder	GLikely benign
Select item 1332929	NM_017988.6(SCYL2):c.2167C>T (p.Leu723=)	SCYL2	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum +1 more	GBenign
Select item 2612197	NM_017988.6(SCYL2):c.2224G>A (p.Ala742Thr)	SCYL2 (A746T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158831	NM_017988.6(SCYL2):c.2243C>A (p.Ser748Tyr)	SCYL2 (S752Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618658	NM_017988.6(SCYL2):c.2246T>C (p.Val749Ala)	SCYL2 (V580A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596200	NM_017988.6(SCYL2):c.2248C>T (p.Pro750Ser)	SCYL2 (P754S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540151	NM_017988.6(SCYL2):c.2264G>A (p.Gly755Asp)	SCYL2 (G586D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3369552	NM_017988.6(SCYL2):c.2313_2320dup (p.Asn774delinsMetAlaTer)	SCYL2	Duplication (nonsense)	not provided	GUncertain significance
Select item 3158832	NM_017988.6(SCYL2):c.2331G>A (p.Met777Ile)	SCYL2 (M777I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158833	NM_017988.6(SCYL2):c.2396G>A (p.Ser799Asn)	SCYL2 (S630N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608698	NM_017988.6(SCYL2):c.2426G>A (p.Gly809Glu)	SCYL2 (G813E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258582	NM_017988.6(SCYL2):c.2429C>T (p.Thr810Ile)	SCYL2 (T641I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316760	NM_017988.6(SCYL2):c.2504C>A (p.Thr835Lys)	SCYL2 (T835K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377729	NM_017988.6(SCYL2):c.2511G>A (p.Met837Ile)	SCYL2 (M668I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158834	NM_017988.6(SCYL2):c.2515G>A (p.Ala839Thr)	SCYL2 (A670T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516861	NM_017988.6(SCYL2):c.2536C>T (p.Pro846Ser)	SCYL2 (P850S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231122	NM_017988.6(SCYL2):c.2565G>C (p.Gln855His)	SCYL2 (Q855H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316755	NM_017988.6(SCYL2):c.2623C>T (p.Pro875Ser)	SCYL2 (P879S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279774	NM_017988.6(SCYL2):c.2631G>A (p.Met877Ile)	SCYL2 (M708I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049470	NM_017988.6(SCYL2):c.2662G>A (p.Val888Met)	SCYL2 (V719M +2 more)	Single nucleotide variant (missense variant)	SCYL2-related disorder	GLikely benign
Select item 2230342	NM_017988.6(SCYL2):c.2734dup (p.Thr912fs)	SCYL2 (T743fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2520109	NM_017988.6(SCYL2):c.2747A>G (p.Asn916Ser)	SCYL2 (N916S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2207646	NM_017988.6(SCYL2):c.2767G>A (p.Asp923Asn)	SCYL2 (D754N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 687225	GRCh37/hg19 12q23.1(chr12:100455466-100697174)x3	ACTR6, BLTP3B +2 more	Copy number gain	not provided	GUncertain significance
Select item 687126	GRCh37/hg19 12q23.1(chr12:100185181-100736359)x1	ACTR6, ANKS1B +3 more	Copy number loss	not provided	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 563969	GRCh37/hg19 12q23.1(chr12:99725136-100857873)x3	ACTR6, ANKS1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 563938	GRCh37/hg19 12q23.1(chr12:100340426-100726200)x1	UHRF1BP1L, SCYL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 443406	GRCh37/hg19 12q23.1-23.2(chr12:100667424-101651880)x3	ANO4, GAS2L3 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 89