CFC1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 154846	GRCh38/hg38 2q21.1(chr2:130527409-130594290)x1	CFC1, CFC1B	Copy number loss	See cases	GLikely benign
Select item 136739	NM_032545.4(CFC1):c.615C>G (p.Ser205=)	CFC1 (P167R)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 136738	NM_032545.4(CFC1):c.606G>C (p.Leu202=)	CFC1 (W164S)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 136737	NM_032545.4(CFC1):c.600G>T (p.Arg200=)	CFC1 (G162V)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 136736	NM_032545.4(CFC1):c.588C>A (p.Pro196=)	CFC1 (P158Q)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2253080	NM_032545.4(CFC1):c.584C>T (p.Ala195Val)	CFC1 (R157C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5188	NM_032545.4(CFC1):c.522del (p.Ala175fs)	CFC1 (A136fs +2 more)	Deletion (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 801752	NM_032545.4(CFC1):c.484T>C (p.Phe162Leu)	CFC1 (F87L +1 more)	Single nucleotide variant (synonymous variant +1 more)	Heterotaxy, visceral, 2, autosomal	GBenign
Select item 148546	GRCh38/hg38 2q21.1(chr2:130594216-131310557)x3	AMER3, ARHGEF4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 136735	NM_032545.4(CFC1):c.433G>A (p.Ala145Thr)	CFC1 (A145T)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 5190	NM_032545.4(CFC1):c.361_362+18dup	CFC1	Duplication (intron variant +1 more)	Heterotaxy, visceral, 2, autosomal	GPathogenic
Select item 5187	NM_032545.4(CFC1):c.334C>T (p.Arg112Cys)	CFC1 (R112C)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 2, autosomal	GPathogenic
Select item 1878757	NM_032545.4(CFC1):c.260_267del (p.Arg87fs)	CFC1 (R87fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1216095	NM_032545.4(CFC1):c.232C>T (p.Arg78Trp)	CFC1 (R78W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 136734	NM_032545.4(CFC1):c.225C>A (p.Pro75=)	CFC1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2281277	NM_032545.4(CFC1):c.214G>A (p.Glu72Lys)	CFC1 (E72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319341	NM_032545.4(CFC1):c.211G>C (p.Glu71Gln)	CFC1 (E71Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2355671	NM_032545.4(CFC1):c.209C>T (p.Pro70Leu)	CFC1 (P70L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445757	NM_032545.4(CFC1):c.196_207dup (p.Gly69_Pro70insGluGlyTrpGly)	CFC1	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 420508	NM_032545.4(CFC1):c.204G>T (p.Trp68Cys)	CFC1 (W68C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2521316	NM_032545.4(CFC1):c.175G>A (p.Gly59Arg)	CFC1 (G59R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 136733	NM_032545.4(CFC1):c.140G>A (p.Arg47Gln)	CFC1 (R47Q)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2364422	NM_032545.4(CFC1):c.92A>G (p.His31Arg)	CFC1 (H31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579853	NM_032545.4(CFC1):c.81_82del (p.Lys30fs)	CFC1 (K30fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 136732	NM_032545.4(CFC1):c.63T>C (p.Asn21=)	CFC1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 136731	NM_032545.4(CFC1):c.61A>C (p.Asn21His)	CFC1 (N21H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1302607	NM_032545.4(CFC1):c.36G>T (p.Thr12=)	CFC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 2684697	GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	AMER3, ARHGEF4 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 635912	Single allele	AMER3, CFC1 +4 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 562617	GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1	TUBA3E, PTPN18 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443178	GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	AMER3, ARHGEF4 +23 more	Copy number gain	See cases	GUncertain significance
Select item 443063	GRCh37/hg19 2q21.1(chr2:130685932-131478005)x3	CCDC115, CCDC74B +11 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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Items: 46