CRLF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 737860	NM_004750.5(CRLF1):c.1260T>C (p.Pro420=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2233948	NM_004750.5(CRLF1):c.1247C>G (p.Thr416Arg)	CRLF1 (T416R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1966983	NM_004750.5(CRLF1):c.1233G>A (p.Ser411=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975314	NM_004750.5(CRLF1):c.1213-21_1213-20del	CRLF1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1971476	NM_004750.5(CRLF1):c.1212+17C>T	LOC130064020, CRLF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2092628	NM_004750.5(CRLF1):c.1212+9G>A	CRLF1, LOC130064020	Single nucleotide variant (intron 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 749732	NM_004750.5(CRLF1):c.1203C>T (p.Thr401=)	CRLF1, LOC130064020	Single nucleotide variant (synonymous 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 739883	NM_004750.5(CRLF1):c.1143C>T (p.Ser381=)	CRLF1, LOC130064021	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506658	NM_004750.5(CRLF1):c.1135dup (p.Tyr379fs)	CRLF1, LOC130064021 (Y379fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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 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
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 2155811	NM_004750.5(CRLF1):c.1092G>A (p.Arg364=)	CRLF1, LOC130064021	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2102956	NM_004750.5(CRLF1):c.1080G>C (p.Ser360=)	CRLF1, LOC130064021	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)	CRLF1-related disorder +1 more	GLikely benign
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 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 2805088	NM_004750.5(CRLF1):c.1025-8A>G	CRLF1, LOC130064021	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1723313	NM_004750.5(CRLF1):c.1024+2_1024+5dup	CRLF1	Duplication (splice donor variant)	not specified	GUncertain significance
Select item 2024156	NM_004750.5(CRLF1):c.1020C>A (p.Arg340=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975554	NM_004750.5(CRLF1):c.1018C>G (p.Arg340Gly)	CRLF1 (R340G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909765	NM_004750.5(CRLF1):c.1005C>T (p.Ala335=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649584	NM_004750.5(CRLF1):c.1005C>A (p.Ala335=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881938	NM_004750.5(CRLF1):c.999C>A (p.Pro333=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 816854	NM_004750.5(CRLF1):c.985dup (p.Glu329fs)	CRLF1 (E329fs)	Duplication (frameshift variant)	Cold-induced sweating syndrome 1	GPathogenic
Select item 418665	NM_004750.5(CRLF1):c.983dup (p.Ser328fs)	CRLF1 (S328fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2172866	NM_004750.5(CRLF1):c.976A>G (p.Ile326Val)	CRLF1 (I326V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019412	NM_004750.5(CRLF1):c.972C>T (p.Ala324=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124404	NM_004750.5(CRLF1):c.972C>G (p.Ala324=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649585	NM_004750.5(CRLF1):c.966G>A (p.Lys322=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 929437	NM_004750.5(CRLF1):c.935G>T (p.Arg312Leu)	CRLF1 (R312L)	Single nucleotide variant (missense variant)	Cold-induced sweating syndrome 1	GLikely pathogenic
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 1971791	NM_004750.5(CRLF1):c.904A>C (p.Lys302Gln)	CRLF1, LOC112543470 (K302Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 21008	NM_004750.5(CRLF1):c.857_864del (p.Val286fs)	CRLF1, LOC112543470 (V286fs)	Deletion (frameshift variant)	Cold-induced sweating syndrome 1	GPathogenic
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 1971301	NM_004750.5(CRLF1):c.855+11C>T	CRLF1, LOC112543470	Single nucleotide variant (intron variant)	not provided	GBenign
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 2055113	NM_004750.5(CRLF1):c.841A>G (p.Ser281Gly)	CRLF1, LOC112543470 (S281G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 3233534	NM_004750.5(CRLF1):c.803T>C (p.Phe268Ser)	CRLF1, LOC112543470 (F268S)	Single nucleotide variant (missense variant)	not specified	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 735827	NM_004750.5(CRLF1):c.786C>T (p.Ala262=)	CRLF1, LOC112543470	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2649586	NM_004750.5(CRLF1):c.747G>A (p.Leu249=)	CRLF1, LOC112543470	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 758953	NM_004750.5(CRLF1):c.738C>T (p.Val246=)	CRLF1, LOC112543470	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2107391	NM_004750.5(CRLF1):c.721G>A (p.Val241Met)	CRLF1 (V241M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3077529	NM_004750.5(CRLF1):c.718G>C (p.Asp240His)	CRLF1 (D240H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 216913	NM_004750.5(CRLF1):c.713dup (p.Pro239fs)	CRLF1 (P239fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 5712	NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs)	CRLF1 (P238fs)	Indel (frameshift variant)	Cold-induced sweating syndrome 1	GPathogenic
Select item 799380	NM_004750.5(CRLF1):c.705G>C (p.Thr235=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698073	NM_004750.5(CRLF1):c.698-5C>T	CRLF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174948	NM_004750.5(CRLF1):c.698-19T>G	CRLF1	Single nucleotide variant (intron variant)	CRLF1-related disorder +1 more	GBenign
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 1975989	NM_004750.5(CRLF1):c.697+12G>A	CRLF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978621	NM_004750.5(CRLF1):c.678G>A (p.Thr226=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5707	NM_004750.5(CRLF1):c.676dup (p.Thr226fs)	CRLF1 (T226fs)	Duplication (frameshift variant)	Cold-induced sweating syndrome 1	GPathogenic
Select item 2683486	NM_004750.5(CRLF1):c.667G>A (p.Asp223Asn)	CRLF1 (D223N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782923	NM_004750.5(CRLF1):c.666C>T (p.Ser222=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1693739	NM_004750.5(CRLF1):c.661C>T (p.Arg221Cys)	CRLF1 (R221C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2082534	NM_004750.5(CRLF1):c.660C>G (p.Ala220=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2017138	NM_004750.5(CRLF1):c.650T>A (p.Leu217Gln)	CRLF1 (L217Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698661	NM_004750.5(CRLF1):c.646C>T (p.Arg216Cys)	CRLF1 (R216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282618	NM_004750.5(CRLF1):c.643A>C (p.Asn215His)	CRLF1 (N215H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2649587	NM_004750.5(CRLF1):c.615G>C (p.Thr205=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176302	NM_004750.5(CRLF1):c.585C>T (p.Cys195=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077528	NM_004750.5(CRLF1):c.571G>C (p.Gly191Arg)	CRLF1 (G191R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2170304	NM_004750.5(CRLF1):c.569T>C (p.Val190Ala)	CRLF1 (V190A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929438	NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter)	CRLF1 (W177*)	Single nucleotide variant (nonsense)	Cold-induced sweating syndrome 1	GPathogenic
Select item 774955	NM_004750.5(CRLF1):c.528-4G>A	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1976741	NM_004750.5(CRLF1):c.528-18G>A	CRLF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872427	NM_004750.5(CRLF1):c.527+13C>G	CRLF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5709	NM_004750.5(CRLF1):c.527+5G>A	CRLF1	Single nucleotide variant (intron variant)	Cold-induced sweating syndrome 1	GPathogenic
Select item 2395419	NM_004750.5(CRLF1):c.511C>T (p.Leu171Phe)	CRLF1 (L171F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973588	NM_004750.5(CRLF1):c.504C>G (p.Asn168Lys)	CRLF1 (N168K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099494	NM_004750.5(CRLF1):c.499A>G (p.Thr167Ala)	CRLF1 (T167A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979097	NM_004750.5(CRLF1):c.497A>G (p.His166Arg)	CRLF1 (H166R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649588	NM_004750.5(CRLF1):c.495C>G (p.Leu165=)	CRLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986192	NM_004750.5(CRLF1):c.488C>A (p.Thr163Asn)	CRLF1 (T163N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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