55681[geneid] - ClinVar

Search results

Items: 88

	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 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

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Items: 88