C0238339[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 576351	NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)	CTRC (R29*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1415848	NM_007272.3(CTRC):c.473C>T (p.Thr158Ile)	CTRC (T158I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 132142	NM_001379610.1(SPINK1):c.194+2T>C	SPINK1	Single nucleotide variant (splice donor variant)	SPINK1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 239503	NM_003122.5(SPINK1):c.-147A>G	SPINK1	Single nucleotide variant (5 prime UTR variant +1 more)	Tropical pancreatitis +3 more	GConflicting classifications of pathogenicity
Select item 35819	NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	CFTR (S42F)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 235283	NM_000492.4(CFTR):c.164+28A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53425	NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	CFTR (P67L)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7232	NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	CFTR (L88fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 48692	NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	CFTR (G178R)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7190	NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	CFTR (L206W)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 54080	NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)	CFTR (R297W)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GUncertain significance
Select item 35894	NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	CFTR (L320V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +6 more	GConflicting classifications of pathogenicity
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53167	NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	CFTR (S341P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53170	NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	GPathogenic
Select item 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR-AS1, CFTR (D443Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 35821	NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	CFTR, CFTR-AS1 (V456A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7107	NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	CFTR, CFTR-AS1 (Q493*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7106	NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	CFTR, CFTR-AS1 (I507del)	Microsatellite (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7116	NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	CFTR, LOC111674475 (S549N)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7123	NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	CFTR, LOC111674475 (A559T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 35833	NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	CFTR (G622D)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GConflicting classifications of pathogenicity
Select item 35835	NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	CFTR (R668C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 38493	NM_000492.4(CFTR):c.2052del (p.Lys684fs)	CFTR (K684fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 35842	NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	CFTR (I807M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +6 more	GConflicting classifications of pathogenicity
Select item 53505	NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	CFTR (D836Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 53529	NM_000492.4(CFTR):c.2620-26A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 38497	NM_000492.4(CFTR):c.2657+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7224	NM_000492.4(CFTR):c.2988+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53613	NM_000492.4(CFTR):c.2989-1G>A	CFTR, LOC111674472	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 35859	NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	CFTR, LOC111674472 (P1013H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 more	GUncertain significance
Select item 555228	NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)	CFTR (R1162Q)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more	GUncertain significance
Select item 7166	NM_000492.3(CFTR):c.3718-2477C>T	CFTR, LOC113633877	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7129	NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	CFTR (W1282*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53823	NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)	CFTR (A1285V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 7136	NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	CFTR (N1303K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53933	NM_000492.4(CFTR):c.4251del (p.Glu1418fs)	CFTR, LOC111674477 (E1418fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 411121	NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	CFTR, LOC111674477 (R1453W)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1749265	NM_001868.4(CPA1):c.1208C>T (p.Thr403Met)	CPA1 (T403M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 29923	NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys)	PRSS1, TRB (R116C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GPathogenic/Likely pathogenic

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Items: 45