C5676890[trait identifier] AND "ClinGen Severe Combined Immunodeficien - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683587	NM_002185.5(IL7R):c.41T>C (p.Leu14Ser)	IL7R (L14S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 2187538	NM_002185.5(IL7R):c.82+14A>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 353259	NM_002185.5(IL7R):c.83-2A>T	IL7R	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 377976	NM_002185.5(IL7R):c.132C>T (p.Ser44=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 1393864	NM_002185.5(IL7R):c.135G>C (p.Gln45His)	IL7R (Q45H)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 134523	NM_002185.5(IL7R):c.152C>T (p.Ser51Leu)	IL7R (S51L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 14839	NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)	IL7R (I66T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 800346	NM_002185.5(IL7R):c.205C>G (p.Leu69Val)	IL7R (L69V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 418257	NM_002185.5(IL7R):c.212T>C (p.Phe71Ser)	IL7R (F71S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 1323115	NM_002185.5(IL7R):c.235G>T (p.Glu79Ter)	IL7R (E79*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GLikely pathogenic FDA Recognized database
Select item 804345	NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)	IL7R (Q89*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GLikely pathogenic FDA Recognized database
Select item 705625	NM_002185.5(IL7R):c.314G>A (p.Ser105Asn)	IL7R (S105N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 377977	NM_002185.5(IL7R):c.339A>C (p.Glu113Asp)	IL7R (E113D)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 36392	NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)	IL7R (C118Y)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 224841	NM_002185.5(IL7R):c.361dup (p.Ile121fs)	IL7R (I121fs)	Duplication (frameshift variant +1 more)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 642787	NM_002185.5(IL7R):c.355A>T (p.Lys119Ter)	IL7R (K119*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GLikely pathogenic FDA Recognized database
Select item 1339483	NM_002185.5(IL7R):c.379G>A (p.Val127Ile)	IL7R (V127I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 14843	NM_002185.5(IL7R):c.394C>T (p.Pro132Ser)	IL7R (P132S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely pathogenic FDA Recognized database
Select item 14840	NM_002185.5(IL7R):c.412G>A (p.Val138Ile)	IL7R (V138I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 137585	NM_002185.5(IL7R):c.495C>T (p.His165=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 14841	NM_002185.5(IL7R):c.538-1G>A	IL7R	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 36393	NM_002185.5(IL7R):c.539A>C (p.His180Pro)	IL7R (H180P)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 376098	NM_002185.5(IL7R):c.553A>T (p.Ser185Cys)	IL7R (S185C)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 444650	NM_002185.5(IL7R):c.554G>T (p.Ser185Ile)	IL7R (S185I)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 353266	NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys)	IL7R (Y201C)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 1298987	NM_002185.5(IL7R):c.616C>T (p.Arg206Ter)	IL7R (R206*)	Single nucleotide variant (nonsense)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 134528	NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)	IL7R (S221I)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 578174	NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)	IL7R (S235*)	Single nucleotide variant (nonsense)	Immunodeficiency 104	GLikely pathogenic FDA Recognized database
Select item 353268	NM_002185.5(IL7R):c.707G>A (p.Gly236Glu)	IL7R (G236E)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 134530	NM_002185.5(IL7R):c.731C>T (p.Thr244Ile)	IL7R (T244I)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 418258	NM_002185.5(IL7R):c.778G>A (p.Ala260Thr)	IL7R (A260T)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 709483	NM_002185.5(IL7R):c.1020T>G (p.Leu340=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 134532	NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr)	IL7R (N348T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 134533	NM_002185.5(IL7R):c.1066A>G (p.Ile356Val)	IL7R (I356V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 134538	NM_002185.5(IL7R):c.1092T>G (p.Asp364Glu)	IL7R (D364E)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 134534	NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala)	IL7R (T411A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 134536	NM_002185.5(IL7R):c.1241C>T (p.Thr414Met)	IL7R (T414M)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 403361	NM_000448.3(RAG1):c.746A>G (p.His249Arg)	RAG1 (H249R)	Single nucleotide variant (no sequence alteration +1 more)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 256189	NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg)	RAG1 (K820R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database

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Items: 39