"GeneDx"[submitter] AND "CD40LG"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58686	GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2	ARHGEF6, ATP11C +50 more	Copy number gain	See cases	GPathogenic
Select item 58687	GRCh38/hg38 Xq26.3(chrX:136613664-137581772)x3	ARHGEF6, CD40LG +23 more	Copy number gain	See cases	GPathogenic
Select item 1326026	NC_000023.11:g.136648063del	CD40LG	Deletion	not provided	GLikely benign
Select item 422070	NM_000074.3(CD40LG):c.107T>A (p.Met36Lys)	CD40LG (M36K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 518406	NM_000074.3(CD40LG):c.148T>C (p.Leu50=)	CD40LG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 1 +2 more	GBenign
Select item 1282887	NM_000074.3(CD40LG):c.157-277G>A	CD40LG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449464	NM_000074.3(CD40LG):c.216C>A (p.Cys72Ter)	CD40LG (C72*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1268645	NM_000074.3(CD40LG):c.288+188dup	CD40LG	Duplication (intron variant)	not provided	GBenign
Select item 1288336	NM_000074.3(CD40LG):c.289-327T>C	CD40LG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195319	NM_000074.3(CD40LG):c.289-2A>C	CD40LG	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 449466	NM_000074.3(CD40LG):c.346+1del	CD40LG	Deletion (splice donor variant)	not provided	GPathogenic
Select item 423253	NM_000074.3(CD40LG):c.368C>T (p.Ala123Val)	CD40LG (A123V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1 +1 more	GUncertain significance
Select item 817721	NM_000074.3(CD40LG):c.375del (p.His125fs)	CD40LG (H125fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 420104	NM_000074.3(CD40LG):c.409+3A>T	CD40LG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 518407	NM_000074.3(CD40LG):c.410-13T>C	CD40LG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 1 +2 more	GBenign
Select item 11164	NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly)	CD40LG (W140G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 265075	NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu)	CD40LG (G144E)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1 +1 more	GLikely pathogenic
Select item 381652	NM_000074.3(CD40LG):c.440C>A (p.Thr147Asn)	CD40LG (T147N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 421148	NM_000074.3(CD40LG):c.464T>A (p.Leu155Gln)	CD40LG (L155Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 373814	NM_000074.3(CD40LG):c.478del (p.Gln160fs)	CD40LG (Q160fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2504668	NM_000074.3(CD40LG):c.509A>G (p.Tyr170Cys)	CD40LG (Y170C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 280565	NM_000074.3(CD40LG):c.638del (p.Ser213fs)	CD40LG (S213fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 426663	NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter)	CD40LG (Q220*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 1 +1 more	GPathogenic
Select item 1215301	NM_000074.3(CD40LG):c.674T>C (p.Leu225Ser)	CD40LG (L225S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 381653	NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser)	CD40LG (F256S)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 1 +1 more	GLikely pathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	SPANXD, TCEAL4 +822 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARMCX2, CFAP47 +821 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	MAGEE2, MTRNR2L10 +822 more	Copy number gain	See cases	GPathogenic

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Items: 43