Tetraethyldiphosphine disulfide - ClinVar - NCBI

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The following term was not found in ClinVar: Tetraethyldiphosphine.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96692	NM_003327.4(TNFRSF4):c.193C>T (p.Arg65Cys)	TNFRSF4 (R65C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency	GPathogenic
Select item 5234	NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GPathogenic/Likely pathogenic
Select item 459806	NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys)	PLOD1 (R42C +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1698984	NM_152268.4(PARS2):c.874T>C (p.Cys292Arg)	PARS2 (C292R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GUncertain significance
Select item 2875	NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)	PCSK9 (D249Y +4 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 40468	NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)	NRAS (G12C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 29802	NM_002506.3(NGF):c.680_682delinsA (p.Thr227fs)	NGF, NGF-AS1 (T227fs)	Indel (frameshift variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GPathogenic
Select item 200938	NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)	LMNA (R216C +2 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 1268234	NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys)	CADM3 (Y172C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, type 2FF +1 more	GLikely pathogenic
Select item 7464	NM_002241.5(KCNJ10):c.418T>C (p.Cys140Arg)	KCNJ10 (C140R)	Single nucleotide variant (missense variant)	EAST syndrome	GPathogenic
Select item 214799	NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)	NDUFS2 (Y53C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +3 more	GUncertain significance
Select item 18044	NM_000488.4(SERPINC1):c.379T>C (p.Cys127Arg)	SERPINC1 (C127R +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 18014	NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)	SERPINC1 (R79H +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 16543	NM_000186.4(CFH):c.1606T>C (p.Cys536Arg)	CFH (C536R)	Single nucleotide variant (missense variant)	Factor H deficiency	GPathogenic
Select item 16546	NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa)	CFH	Deletion (stop lost)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Grisk factor
Select item 16518	NM_001994.3(F13B):c.65-2del	F13B	Deletion (splice acceptor variant)	Factor XIII, b subunit, deficiency of	GPathogenic
Select item 3233851	NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser)	CRB1 (C1106S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 43636	NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)	TNNT2 (R130C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 165549	NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)	TNNT2 (R104C +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2 +6 more	GPathogenic/Likely pathogenic
Select item 427159	NM_000228.3(LAMB3):c.1127G>C (p.Cys376Ser)	LAMB3 (C376S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 495739	NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr)	LAMB3 (C316Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 520201	NM_003238.6(TGFB2):c.1139G>T (p.Cys380Phe)	TGFB2 (C380F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 201304	NM_001035.3(RYR2):c.10592A>G (p.Tyr3531Cys)	RYR2 (Y3531C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201405	NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)	RYR2 (Y4962C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 234306	NM_001243133.2(NLRP3):c.2963G>C (p.Cys988Ser)	NLRP3 (C990S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 2377973	NM_005742.4(PDIA6):c.1229A>C (p.Glu410Ala)	ATP6V1C2, PDIA6 (E415A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210930	NM_005742.4(PDIA6):c.1219G>A (p.Val407Ile)	ATP6V1C2, PDIA6 (V407I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559827	NM_005742.4(PDIA6):c.1219G>C (p.Val407Leu)	ATP6V1C2, PDIA6 (V404L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409877	NM_005742.4(PDIA6):c.1198G>C (p.Gly400Arg)	ATP6V1C2, PDIA6 (G452R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210929	NM_005742.4(PDIA6):c.1121G>C (p.Gly374Ala)	PDIA6 (G374A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210928	NM_005742.4(PDIA6):c.1091C>T (p.Ala364Val)	PDIA6 (A364V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393710	NM_005742.4(PDIA6):c.1042G>A (p.Ala348Thr)	PDIA6 (A345T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604852	NM_005742.4(PDIA6):c.947A>G (p.Tyr316Cys)	PDIA6 (Y368C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510149	NM_005742.4(PDIA6):c.907C>G (p.Pro303Ala)	PDIA6 (P355A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258578	NM_005742.4(PDIA6):c.895G>T (p.Val299Leu)	PDIA6 (V299L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617629	NM_005742.4(PDIA6):c.847A>G (p.Asn283Asp)	PDIA6 (N335D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620380	NM_005742.4(PDIA6):c.845T>G (p.Ile282Ser)	PDIA6 (I282S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358186	NM_005742.4(PDIA6):c.821C>T (p.Pro274Leu)	PDIA6 (P322L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210937	NM_005742.4(PDIA6):c.719T>A (p.Ile240Asn)	PDIA6 (I240N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210936	NM_005742.4(PDIA6):c.707G>A (p.Gly236Glu)	PDIA6 (G288E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723893	NM_005742.4(PDIA6):c.702del (p.Arg235fs)	PDIA6 (R232fs +4 more)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 154445	GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3	C2orf50, E2F6 +98 more	Copy number gain	See cases	GPathogenic
Select item 2364270	NM_005742.4(PDIA6):c.697G>A (p.Gly233Arg)	PDIA6 (G281R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588319	NM_005742.4(PDIA6):c.632C>T (p.Thr211Met)	PDIA6 (T259M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334421	NM_005742.4(PDIA6):c.547del (p.Val183fs)	PDIA6 (V180fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3305531	NM_005742.4(PDIA6):c.499G>A (p.Asp167Asn)	PDIA6 (D164N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210934	NM_005742.4(PDIA6):c.487A>G (p.Ile163Val)	PDIA6 (I215V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305530	NM_005742.4(PDIA6):c.433G>C (p.Gly145Arg)	PDIA6 (G142R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210933	NM_005742.4(PDIA6):c.425G>A (p.Arg142Gln)	PDIA6 (R147Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262077	NM_005742.4(PDIA6):c.413G>A (p.Arg138His)	PDIA6 (R143H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210932	NM_005742.4(PDIA6):c.394C>T (p.Arg132Cys)	PDIA6 (R137C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068107	NM_005742.4(PDIA6):c.286del (p.Gln96fs)	PDIA6 (Q101fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2219337	NM_005742.4(PDIA6):c.256C>T (p.His86Tyr)	PDIA6 (H134Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540307	NM_005742.4(PDIA6):c.145G>A (p.Glu49Lys)	PDIA6 (E49K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210927	NM_005742.4(PDIA6):c.107A>G (p.Asn36Ser)	PDIA6 (N88S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210935	NM_005742.4(PDIA6):c.64T>A (p.Ser22Thr)	PDIA6 (S74T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 541325	NM_002246.3(KCNK3):c.832A>T (p.Ser278Cys)	KCNK3 (S278C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 375410	NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)	PREPL, SLC3A1 (R584fs)	Deletion (frameshift variant +1 more)	Cystinuria	GPathogenic/Likely pathogenic
Select item 12773	NM_002354.3(EPCAM):c.197G>A (p.Cys66Tyr)	EPCAM (C66Y)	Single nucleotide variant (missense variant)	Congenital diarrhea 5 with tufting enteropathy	GPathogenic
Select item 8072	NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)	EFEMP1 (R345W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 655652	NM_001039348.3(EFEMP1):c.163T>C (p.Cys55Arg)	EFEMP1 (C55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 403927	NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)	ALMS1 (R3239C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 203977	NM_003849.4(SUCLG1):c.1010A>G (p.Tyr337Cys)	SUCLG1 (Y337C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 29758	NC_000002.12:g.88857564A>G	IGK, IGKC (W173R)	Single nucleotide variant (missense variant)	Recurrent infections associated with rare immunoglobulin isotypes deficiency	GPathogenic
Select item 5851	NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)	EDAR, RANBP2 (C87R)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GUncertain significance
Select item 181728	NM_014795.4(ZEB2):c.664C>T (p.Arg222Cys)	ZEB2 (R222C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 207030	NM_001040142.2(SCN2A):c.5819G>T (p.Cys1940Phe)	SCN2A (C1940F)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GUncertain significance
Select item 189926	NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)	LOC102724058, SCN1A (C1730Y +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 68598	NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)	SCN1A (R920C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +2 more	GPathogenic/Likely pathogenic
Select item 189934	NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg)	SCN1A (C257R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16937	NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys)	CRYGD, LOC100507443 (R15C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 424647	NM_212482.4(FN1):c.778T>G (p.Cys260Gly)	FN1 (C260G)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 424646	NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)	FN1 (Y240D)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 424644	NM_212482.4(FN1):c.367T>C (p.Cys123Arg)	FN1 (C123R)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +1 more	GPathogenic/Likely pathogenic
Select item 424643	NM_212482.4(FN1):c.260G>T (p.Cys87Phe)	FN1 (C87F)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 929490	NM_025216.3(WNT10A):c.756+1G>A	WNT10A	Single nucleotide variant (splice donor variant)	Odonto-onycho-dermal dysplasia	GPathogenic
Select item 2605367	NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser)	COL4A4 (C1588S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 17484	NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)	COL4A3, MFF-DT (R1481*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +3 more	GPathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 814218	GRCh37/hg19 2p25.1(chr2:10668077-10958258)x3	ATP6V1C2, NOL10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 689169	GRCh37/hg19 2p25.1(chr2:10479046-11113701)x3	ATP6V1C2, HPCAL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562578	GRCh37/hg19 2p25.1(chr2:10590176-10957034)x3	ATP6V1C2, NOL10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic

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