ClinVar for Gene (Select 23529) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267549	NM_013246.3(CLCF1):c.133G>C (p.Asp45His)	CLCF1, LOC100130987 (D45H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267548	NM_013246.3(CLCF1):c.293A>G (p.Asn98Ser)	CLCF1, LOC100130987 (N98S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267547	NM_013246.3(CLCF1):c.364C>G (p.Arg122Gly)	CLCF1, LOC100130987 (R122G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267546	NM_013246.3(CLCF1):c.140C>G (p.Thr47Ser)	CLCF1, LOC100130987 (T47S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267545	NM_013246.3(CLCF1):c.487C>T (p.Pro163Ser)	CLCF1, LOC100130987 (P153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267544	NM_013246.3(CLCF1):c.599A>G (p.Lys200Arg)	CLCF1, LOC100130987 (K190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145390	NM_013246.3(CLCF1):c.389G>A (p.Arg130His)	CLCF1, LOC100130987 (R120H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145389	NM_013246.3(CLCF1):c.388C>T (p.Arg130Cys)	CLCF1, LOC100130987 (R130C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145388	NM_013246.3(CLCF1):c.358C>T (p.Leu120Phe)	CLCF1, LOC100130987 (L110F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3046787	NM_013246.3(CLCF1):c.75G>A (p.Val25=)	CLCF1, LOC100130987	Single nucleotide variant (synonymous variant)	CLCF1-related disorder	GLikely benign
Select item 3039157	NM_013246.3(CLCF1):c.549C>T (p.Asp183=)	CLCF1, LOC100130987	Single nucleotide variant (synonymous variant)	CLCF1-related disorder	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2610638	NM_013246.3(CLCF1):c.104G>T (p.Gly35Val)	CLCF1, LOC100130987 (G25V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2377569	NM_013246.3(CLCF1):c.593C>T (p.Ser198Leu)	CLCF1, LOC100130987 (S198L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355705	NM_013246.3(CLCF1):c.82C>T (p.Leu28Phe)	CLCF1, LOC100130987 (L18F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281968	NM_013246.3(CLCF1):c.448G>A (p.Val150Ile)	CLCF1, LOC100130987 (V140I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229710	NM_013246.3(CLCF1):c.211G>A (p.Glu71Lys)	CLCF1, LOC100130987 (E71K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1694059	NM_013246.3(CLCF1):c.143G>A (p.Arg48His)	CLCF1, LOC100130987 (R38H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694058	NM_013246.3(CLCF1):c.164G>A (p.Arg55His)	CLCF1, LOC100130987 (R45H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694057	NM_013246.3(CLCF1):c.392G>A (p.Arg131His)	CLCF1, LOC100130987 (R121H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1690798	NM_013246.3(CLCF1):c.22T>C (p.Ser8Pro)	CLCF1, LOC100130987 (S8P)	Single nucleotide variant (5 prime UTR variant +1 more)	See cases	GUncertain significance
Select item 1163928	NM_013246.3(CLCF1):c.89G>A (p.Arg30His)	CLCF1, LOC100130987 (R20H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163927	NM_013246.3(CLCF1):c.112C>T (p.Pro38Ser)	CLCF1, LOC100130987 (P28S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 797690	NM_013246.3(CLCF1):c.291C>T (p.Leu97=)	CLCF1, LOC100130987	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768458	NM_013246.3(CLCF1):c.276G>A (p.Glu92=)	CLCF1, LOC100130987	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764718	NM_013246.3(CLCF1):c.387G>A (p.Leu129=)	CLCF1, LOC100130987	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738649	NM_013246.3(CLCF1):c.279G>A (p.Val93=)	CLCF1, LOC100130987	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730799	NM_013246.3(CLCF1):c.24G>A (p.Ser8=)	CLCF1, LOC100130987	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 713415	NM_013246.3(CLCF1):c.660_666del (p.Gly221fs)	CLCF1, LOC100130987 (G221fs +1 more)	Deletion (frameshift variant)	not specified +1 more	GBenign
Select item 712600	NM_013246.3(CLCF1):c.88C>T (p.Arg30Cys)	CLCF1, LOC100130987 (R30C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 548547	NM_013246.3(CLCF1):c.163C>T (p.Arg55Cys)	CLCF1, LOC100130987 (R45C +1 more)	Single nucleotide variant (missense variant)	Cold-induced sweating syndrome 2	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 39568	NM_013246.3(CLCF1):c.676T>C (p.Ter226Arg)	CLCF1, LOC100130987	Single nucleotide variant (stop lost)	Cold-induced sweating syndrome 2	GPathogenic
Select item 21503	NM_013246.3(CLCF1):c.46T>C (p.Cys16Arg)	CLCF1, LOC100130987 (C6R +1 more)	Single nucleotide variant (missense variant)	Cold-induced sweating syndrome 2	GPathogenic
Select item 2931	NM_013246.3(CLCF1):c.590G>T (p.Arg197Leu)	CLCF1, LOC100130987 (R197L +1 more)	Single nucleotide variant (missense variant)	Cold-induced sweating syndrome 2	GPathogenic
Select item 2930	NM_013246.3(CLCF1):c.321C>A (p.Tyr107Ter)	CLCF1, LOC100130987 (Y107* +1 more)	Single nucleotide variant (nonsense)	Cold-induced sweating syndrome 2	GPathogenic

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Links from Gene

Items: 49