"ClinGen Severe Combined Immunodeficiency Variant Curation Expert Pane - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 654335	NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln)	DCLRE1C (R544Q +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 598004	NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys)	DCLRE1C (E632K +2 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 771619	NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database
Select item 254216	NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)	DCLRE1C (T557fs +2 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 706681	NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His)	DCLRE1C (R330H +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database
Select item 287735	NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)	DCLRE1C (K428N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 1708141	NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)	DCLRE1C (R263* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 1679474	NM_001033855.3(DCLRE1C):c.973-1801T>A	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 137073	NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)	DCLRE1C (S320C +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 257180	NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg)	DCLRE1C (H243R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 989764	NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn)	DCLRE1C (Y212N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 952576	NM_001033855.3(DCLRE1C):c.632G>C (p.Gly211Ala)	DCLRE1C (G211A +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1515797	NM_001033855.3(DCLRE1C):c.623C>T (p.Ala208Val)	DCLRE1C (A208V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1057857	NM_001033855.3(DCLRE1C):c.614A>T (p.Asn205Ile)	DCLRE1C (N205I +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 4673	NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)	DCLRE1C (Y199* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 968126	NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu)	DCLRE1C (P83L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 971474	NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn)	DCLRE1C (S82N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 653423	NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly)	DCLRE1C (S197G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 646928	NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln)	DCLRE1C (R196Q +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 576525	NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp)	DCLRE1C (R196W +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 945025	NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln)	DCLRE1C (R191Q +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database
Select item 1322192	NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)	DCLRE1C (R191* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 647111	NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp)	DCLRE1C (E68D +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 791080	NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu)	DCLRE1C (V186L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database
Select item 1022921	NM_001033855.3(DCLRE1C):c.554G>A (p.Gly185Glu)	DCLRE1C (G185E +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 299320	NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys)	DCLRE1C (S184C +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1042451	NM_001033855.3(DCLRE1C):c.539A>T (p.Glu180Val)	DCLRE1C (E180V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 288327	NM_001033855.3(DCLRE1C):c.526A>G (p.Ile176Val)	DCLRE1C (I176V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 657472	NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)	DCLRE1C (Y59* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 35999	NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)	DCLRE1C (P171R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 1965651	NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly)	DCLRE1C (D170G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 666119	NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val)	DCLRE1C (L49V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 879948	NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile)	DCLRE1C (V162I +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1511542	NM_001033855.3(DCLRE1C):c.475A>T (p.Ile159Phe)	DCLRE1C (I159F +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1013704	NM_001033855.3(DCLRE1C):c.470A>C (p.Lys157Thr)	DCLRE1C (K157T +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 879949	NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp)	DCLRE1C (G153W +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 35998	NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)	DCLRE1C (G153R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 1514295	NM_001033855.3(DCLRE1C):c.436A>G (p.Arg146Gly)	DCLRE1C (R146G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 648065	NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His)	DCLRE1C (Q21H +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 418159	NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val)	DCLRE1C (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database
Select item 986350	NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)	DCLRE1C (D136N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 2136850	NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)	DCLRE1C (S119*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 852821	NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)	DCLRE1C (G118*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 522770	NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu)	DCLRE1C (P117L)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1713265	NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)	DCLRE1C (C116R)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 1015913	NM_001033855.3(DCLRE1C):c.319G>A (p.Val107Ile)	DCLRE1C (V107I)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 847561	NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp)	DCLRE1C (E105D)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 2440718	NM_001033855.3(DCLRE1C):c.310G>A (p.Glu104Lys)	DCLRE1C (E104K)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1144398	NM_001033855.3(DCLRE1C):c.291T>C (p.Asp97=)	DCLRE1C (M1T)	Single nucleotide variant (missense variant +4 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 877154	NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr)	DCLRE1C (S94Y)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1438768	NM_001033855.3(DCLRE1C):c.276G>C (p.Gln92His)	DCLRE1C (Q92H)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 968725	NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala)	DCLRE1C (T89A)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 2199693	NM_001033855.3(DCLRE1C):c.262G>A (p.Glu88Lys)	DCLRE1C (E88K)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 633185	NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys)	DCLRE1C (S84C)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1515264	NM_001033855.3(DCLRE1C):c.247A>G (p.Ile83Val)	DCLRE1C (I83V)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 655337	NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu)	DCLRE1C (I83L)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1696158	NM_001033855.3(DCLRE1C):c.247-1G>C	DCLRE1C	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1434035	NM_001033855.3(DCLRE1C):c.245T>C (p.Ile82Thr)	DCLRE1C (I82T)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 2146646	NM_001033855.3(DCLRE1C):c.242G>A (p.Arg81Gln)	DCLRE1C (R81Q)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 4665	NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)	DCLRE1C (R81*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 379076	NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr)	DCLRE1C (R76T)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 536367	NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met)	DCLRE1C (T71M)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 802564	NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)	DCLRE1C (L69*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 254217	NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)	DCLRE1C (T65I)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 648095	NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg)	DCLRE1C (C61R)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1364174	NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)	DCLRE1C (Y60*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 299322	NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe)	DCLRE1C (V57F)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database
Select item 1722324	NM_001033855.3(DCLRE1C):c.161+2T>G	DCLRE1C	Single nucleotide variant (intron variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 2118854	NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)	DCLRE1C (L47*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 2288152	NM_001033855.3(DCLRE1C):c.137C>T (p.Thr46Ile)	DCLRE1C (T46I)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 2163795	NM_001033855.3(DCLRE1C):c.131C>A (p.Ala44Asp)	DCLRE1C (A44D)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 969751	NM_001033855.3(DCLRE1C):c.109+1G>T	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 2150998	NM_001033855.3(DCLRE1C):c.106A>G (p.Lys36Glu)	DCLRE1C (K36E)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 4674	NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	DCLRE1C (H35D)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 1041357	NM_001033855.3(DCLRE1C):c.97C>T (p.His33Tyr)	DCLRE1C (H33Y)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 2136852	NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)	DCLRE1C (S32C)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 1438811	NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	DCLRE1C (S32F)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 2136853	NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)	DCLRE1C (A28P)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 2107279	NM_001033855.3(DCLRE1C):c.57C>A (p.Phe19Leu)	DCLRE1C (F19L)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 841042	NM_001033855.3(DCLRE1C):c.53G>A (p.Arg18His)	DCLRE1C (R18H)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1015912	NM_001033855.3(DCLRE1C):c.50A>G (p.Asp17Gly)	DCLRE1C (D17G)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1069380	NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)	DCLRE1C (I16T)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 1035293	NM_001033855.3(DCLRE1C):c.41T>C (p.Ile14Thr)	DCLRE1C (I14T)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 661326	NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser)	DCLRE1C (I14S)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 2062424	NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)	DCLRE1C (P12S)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 958156	NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr)	DCLRE1C (A9T)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1936229	NM_001033855.3(DCLRE1C):c.24G>A (p.Met8Ile)	DCLRE1C (M8I)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1199335	NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu)	DCLRE1C (G6E)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 860679	NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln)	DCLRE1C (E5Q)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 4677	NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr)	DCLRE1C (M1T)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database

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Items: 90