"Ambry Genetics"[submitter] AND "CHURC1-FNTB"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2277559	NM_145165.3(CHURC1):c.28G>A (p.Glu10Lys)	CHURC1, CHURC1-FNTB (E10K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286630	NM_145165.3(CHURC1):c.35C>T (p.Ser12Leu)	CHURC1, CHURC1-FNTB (S12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291162	NM_001386928.1(CHURC1):c.258G>A (p.Met86Ile)	CHURC1-FNTB, CHURC1 (A63T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403674	NM_001386928.1(CHURC1):c.274G>A (p.Gly92Ser)	CHURC1, CHURC1-FNTB (G92S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540953	NM_001386928.1(CHURC1):c.283G>A (p.Glu95Lys)	CHURC1, CHURC1-FNTB (E96K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360986	NM_001386928.1(CHURC1):c.295A>G (p.Ser99Gly)	CHURC1, CHURC1-FNTB (S99G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510954	NM_001386928.1(CHURC1):c.317G>A (p.Arg106Gln)	CHURC1, CHURC1-FNTB (R106Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2313080	NM_002083.4(GPX2):c.551G>T (p.Arg184Leu)	GPX2, CHURC1-FNTB (R184L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588207	NM_002083.4(GPX2):c.439C>T (p.Arg147Cys)	CHURC1-FNTB, GPX2 (R147C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2404725	NM_002083.4(GPX2):c.413A>G (p.Lys138Arg)	GPX2, CHURC1-FNTB (K138R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2357728	NM_002083.4(GPX2):c.167G>A (p.Arg56His)	GPX2, CHURC1-FNTB (R56H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2480988	NM_002083.4(GPX2):c.31C>T (p.Leu11Phe)	CHURC1-FNTB, GPX2 (L11F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2590738	NM_002083.4(GPX2):c.11T>C (p.Ile4Thr)	CHURC1-FNTB, GPX2 (I4T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2216149	NM_001308154.2(RAB15):c.327C>T (p.Tyr109=)	CHURC1-FNTB, RAB15 (T153M)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2547774	NM_001308154.2(RAB15):c.299T>C (p.Met100Thr)	CHURC1-FNTB, RAB15 (M100T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346866	NM_001308154.2(RAB15):c.79C>G (p.Arg27Gly)	RAB15, CHURC1-FNTB (R27G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486145	NM_001308154.2(RAB15):c.19G>A (p.Val7Met)	CHURC1-FNTB, RAB15 (V7M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2519608	NM_002028.4(FNTB):c.26A>G (p.Tyr9Cys)	CHURC1-FNTB, FNTB (Y9C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397916	NM_002028.4(FNTB):c.29A>G (p.Tyr10Cys)	FNTB, CHURC1-FNTB (Y10C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541644	NM_002028.4(FNTB):c.64C>T (p.Pro22Ser)	CHURC1-FNTB, FNTB (P22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485722	NM_002028.4(FNTB):c.85G>A (p.Glu29Lys)	CHURC1-FNTB, FNTB (E29K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550573	NM_002028.4(FNTB):c.136A>T (p.Ile46Leu)	CHURC1-FNTB, FNTB (I46L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 22