Related gene-specific medical variations for Gene (Select 9244) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362860	NM_004750.5(CRLF1):c.828_831del (p.Arg275_Tyr276insTer)	CRLF1, LOC112543470	Deletion (nonsense)	Cold-induced sweating syndrome 1	GPathogenic
Select item 3362563	NM_004750.5(CRLF1):c.605del (p.Ala202fs)	CRLF1 (A202fs)	Deletion (frameshift variant)	Cold-induced sweating syndrome 1	GLikely pathogenic
Select item 3233534	NM_004750.5(CRLF1):c.803T>C (p.Phe268Ser)	CRLF1, LOC112543470 (F268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2876110	NM_004750.5(CRLF1):c.738C>G (p.Val246=)	CRLF1, LOC112543470	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805088	NM_004750.5(CRLF1):c.1025-8A>G	CRLF1, LOC130064021	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719171	NM_004750.5(CRLF1):c.1194G>T (p.Ser398=)	CRLF1, LOC130064020	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649586	NM_004750.5(CRLF1):c.747G>A (p.Leu249=)	CRLF1, LOC112543470	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572024	NM_004750.5(CRLF1):c.824G>C (p.Arg275Pro)	CRLF1, LOC112543470 (R275P)	Single nucleotide variant (missense variant)	Cold-induced sweating syndrome 1	GLikely pathogenic
Select item 2554431	NM_004750.5(CRLF1):c.1037C>G (p.Pro346Arg)	CRLF1, LOC130064021 (P346R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506658	NM_004750.5(CRLF1):c.1135dup (p.Tyr379fs)	CRLF1, LOC130064021 (Y379fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2410010	NM_004750.5(CRLF1):c.865G>A (p.Asp289Asn)	CRLF1, LOC112543470 (D289N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298217	NM_004750.5(CRLF1):c.1087G>A (p.Val363Met)	CRLF1, LOC130064021 (V363M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197085	NM_004750.5(CRLF1):c.792G>A (p.Lys264=)	CRLF1, LOC112543470	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188909	NM_004750.5(CRLF1):c.898G>A (p.Gly300Ser)	CRLF1, LOC112543470 (G300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155811	NM_004750.5(CRLF1):c.1092G>A (p.Arg364=)	CRLF1, LOC130064021	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2102956	NM_004750.5(CRLF1):c.1080G>C (p.Ser360=)	CRLF1, LOC130064021	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101962	NM_004750.5(CRLF1):c.1204C>T (p.Arg402Cys)	CRLF1, LOC130064020 (R402C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092628	NM_004750.5(CRLF1):c.1212+9G>A	CRLF1, LOC130064020	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055113	NM_004750.5(CRLF1):c.841A>G (p.Ser281Gly)	CRLF1, LOC112543470 (S281G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051470	NM_004750.5(CRLF1):c.781C>T (p.Pro261Ser)	CRLF1, LOC112543470 (P261S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007251	NM_004750.5(CRLF1):c.910G>A (p.Gly304Ser)	CRLF1, LOC112543470 (G304S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000394	NM_004750.5(CRLF1):c.861G>C (p.Val287=)	CRLF1, LOC112543470	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971791	NM_004750.5(CRLF1):c.904A>C (p.Lys302Gln)	CRLF1, LOC112543470 (K302Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971476	NM_004750.5(CRLF1):c.1212+17C>T	CRLF1, LOC130064020	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1971301	NM_004750.5(CRLF1):c.855+11C>T	CRLF1, LOC112543470	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694460	NM_004750.5(CRLF1):c.771G>A (p.Trp257Ter)	CRLF1, LOC112543470 (W257*)	Single nucleotide variant (nonsense)	Cold-induced sweating syndrome 1	GPathogenic
Select item 1693738	NM_004750.5(CRLF1):c.1064G>T (p.Gly355Val)	CRLF1, LOC130064021 (G355V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1676590	NM_004750.5(CRLF1):c.713del (p.Pro238fs)	CRLF1 (P238fs)	Deletion	not provided +1 more	GPathogenic
Select item 1526164	NM_004750.5(CRLF1):c.776C>A (p.Ser259Ter)	CRLF1, LOC112543470 (S259*)	Single nucleotide variant (nonsense)	Cold-induced sweating syndrome 1	GPathogenic
Select item 1247949	NM_004750.5(CRLF1):c.1025-65C>A	CRLF1, LOC130064021	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1162837	NM_004750.5(CRLF1):c.736G>A (p.Val246Ile)	CRLF1, LOC112543470 (V246I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758953	NM_004750.5(CRLF1):c.738C>T (p.Val246=)	CRLF1, LOC112543470	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749732	NM_004750.5(CRLF1):c.1203C>T (p.Thr401=)	CRLF1, LOC130064020	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744867	NM_004750.5(CRLF1):c.1065C>T (p.Gly355=)	CRLF1, LOC130064021	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739883	NM_004750.5(CRLF1):c.1143C>T (p.Ser381=)	CRLF1, LOC130064021	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735827	NM_004750.5(CRLF1):c.786C>T (p.Ala262=)	CRLF1, LOC112543470	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 635333	NM_004750.5(CRLF1):c.829del (p.Arg277fs)	CRLF1, LOC112543470 (R277fs)	Deletion (frameshift variant)	Crisponi/Cold-induced sweating syndrome	GPathogenic
Select item 394826	GRCh37/hg19 19p13.11(chr19:18705046-18717593)x3	CRLF1	Copy number gain	See cases	GUncertain significance
Select item 224612	NM_004750.5(CRLF1):c.845_846del (p.Val282fs)	LOC112543470, CRLF1 (V282fs)	Microsatellite (frameshift variant)	Cold-induced sweating syndrome 1	GPathogenic
Select item 21428	NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg)	CRLF1, LOC130064021 (L374R)	Single nucleotide variant (missense variant)	Cold-induced sweating syndrome 1	Gnot provided
Select item 21008	NM_004750.5(CRLF1):c.857_864del (p.Val286fs)	CRLF1, LOC112543470 (V286fs)	Deletion (frameshift variant)	Cold-induced sweating syndrome 1	GPathogenic
Select item 5713	NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter)	CRLF1, LOC112543470 (R277*)	Single nucleotide variant (nonsense)	Cold-induced sweating syndrome 1	GPathogenic
Select item 5711	NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter)	CRLF1, LOC130064021 (K368*)	Single nucleotide variant (nonsense)	Cold-induced sweating syndrome 1	GPathogenic
Select item 5706	NM_004750.4(CRLF1):c.[242G>A;1121T>G]	CRLF1, LOC130064021 (L374R +1 more)	Single nucleotide variant (missense variant)	Cold-induced sweating syndrome 1	GPathogenic

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Links from Gene

Items: 44