"GeneDx"[submitter] AND "CRLF1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1270588	NM_004750.5(CRLF1):c.1256-139G>A	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231570	NM_004750.5(CRLF1):c.1255+32G>A	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2506658	NM_004750.5(CRLF1):c.1135dup (p.Tyr379fs)	CRLF1, LOC130064021 (Y379fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1247949	NM_004750.5(CRLF1):c.1025-65C>A	CRLF1, LOC130064021	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238396	NM_004750.5(CRLF1):c.1024+42G>A	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 418665	NM_004750.5(CRLF1):c.983dup (p.Ser328fs)	CRLF1 (S328fs)	Duplication (frameshift variant)	Cold-induced sweating syndrome 1 +1 more	GPathogenic
Select item 1220821	NM_004750.5(CRLF1):c.698-114A>G	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280845	NM_004750.5(CRLF1):c.698-156_698-153del	CRLF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1297925	NM_004750.5(CRLF1):c.697+67G>A	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311118	NM_004750.5(CRLF1):c.616C>T (p.Pro206Ser)	CRLF1 (P206S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264471	NM_004750.5(CRLF1):c.398-50C>T	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262315	NM_004750.5(CRLF1):c.398-57C>T	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504415	NM_004750.5(CRLF1):c.397+1G>A	CRLF1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 280836	NM_004750.5(CRLF1):c.322C>T (p.Gln108Ter)	CRLF1 (Q108*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 383460	NM_004750.5(CRLF1):c.266G>A (p.Arg89His)	CRLF1 (R89H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1255324	NM_004750.5(CRLF1):c.237C>T (p.Asn79=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1180122	NM_004750.5(CRLF1):c.115+88G>A	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297989	NM_004750.5(CRLF1):c.115+57G>T	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 224611	NM_004750.5(CRLF1):c.66GCT[3] (p.Leu26del)	CRLF1 (L26del)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign
Select item 1181376	NC_000019.10:g.18606827G>A	CRLF1	Single nucleotide variant	not provided	GBenign
Select item 1258185	NC_000019.10:g.18607022G>A	CRLF1	Single nucleotide variant	not provided	GBenign

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Items: 21