CFC1[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3368929	NM_032545.4(CFC1):c.596C>T (p.Pro199Leu)	CFC1 (L161F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 provided +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 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 3252140	NM_032545.4(CFC1):c.331G>A (p.Gly111Ser)	CFC1 (G111S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3143776	NM_032545.4(CFC1):c.235G>A (p.Ala79Thr)	CFC1 (A79T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 provided +1 more	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 +1 more	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 3362175	NM_032545.4(CFC1):c.509C>G (p.Pro170Arg)	CFC1 (P170R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 29