ClinVar for MedGen (Select 440868) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241146	NM_000492.4(CFTR):c.3932_3933delinsAATATG (p.Ser1311fs)	CFTR (S1311fs)	Indel (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241145	NM_000492.4(CFTR):c.53+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241144	NM_000492.4(CFTR):c.2489dup (p.Glu831fs)	CFTR (E831fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241143	NM_000492.4(CFTR):c.1616_1617insTT (p.Ile539_Val540insTer)	CFTR, LOC111674475	Insertion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241142	NM_000492.4(CFTR):c.2491-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1	GPathogenic
Select item 3241141	NM_000492.4(CFTR):c.618dup (p.Gln207fs)	CFTR (Q207fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241140	NM_000492.4(CFTR):c.1313del (p.Thr438fs)	CFTR, CFTR-AS1 (T438fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241139	NM_000492.4(CFTR):c.3745_3750delinsC (p.Gly1249fs)	CFTR (G1249fs)	Indel (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 3241138	NM_000492.4(CFTR):c.1884del (p.Thr629fs)	CFTR (T629fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2716001	NM_000492.4(CFTR):c.1116+2T>C	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 2680727	NM_000492.4(CFTR):c.3672dup (p.Ala1225fs)	CFTR (A1225fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680725	NM_000492.4(CFTR):c.1423del (p.Leu475fs)	CFTR, CFTR-AS1 (L475fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680724	NM_000492.4(CFTR):c.482del (p.Tyr161fs)	CFTR (Y161fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680723	NM_000492.4(CFTR):c.2755del (p.Tyr919fs)	CFTR (Y919fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 2680722	NM_000492.4(CFTR):c.3444del (p.Ser1149fs)	CFTR (S1149fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680721	NM_000492.4(CFTR):c.2828del (p.Thr943fs)	CFTR (T943fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680720	NM_000492.4(CFTR):c.1210-3C>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680719	NM_000492.4(CFTR):c.3492del (p.Phe1164fs)	CFTR (F1164fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680717	NM_000492.4(CFTR):c.2467G>T (p.Glu823Ter)	CFTR (E823*)	Single nucleotide variant (nonsense)	Cystic fibrosis +1 more	GPathogenic
Select item 2680716	NM_000492.4(CFTR):c.2381_2450del (p.Val794fs)	CFTR (V794fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680715	NM_000492.4(CFTR):c.3330del (p.Phe1111fs)	CFTR, LOC111674472 (F1111fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680714	NM_000492.4(CFTR):c.1067G>A (p.Trp356Ter)	CFTR (W356*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680713	NM_000492.4(CFTR):c.4262_4263del (p.Val1421fs)	CFTR, LOC111674477 (V1421fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680711	NM_000492.4(CFTR):c.434T>A (p.Leu145His)	CFTR (L145H)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680710	NM_000492.4(CFTR):c.54-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 2680708	NM_000492.4(CFTR):c.3078del (p.Phe1026fs)	CFTR, LOC111674472 (F1026fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680707	NM_000492.4(CFTR):c.1468_1471del (p.Phe490fs)	CFTR, CFTR-AS1 (F490fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680703	NM_000492.4(CFTR):c.989dup (p.Ile331fs)	CFTR (I331fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680702	NM_000492.4(CFTR):c.1190dup (p.Thr398fs)	CFTR (T398fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680701	NM_000492.4(CFTR):c.3469-1304C>G	CFTR	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1	GPathogenic
Select item 2680700	NM_000492.4(CFTR):c.2490+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680699	NM_000492.4(CFTR):c.850del (p.Lys283_Met284insTer)	CFTR	Deletion (nonsense)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680698	NM_000492.4(CFTR):c.869+1_869+3del	CFTR	Deletion (splice donor variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680693	NM_000492.4(CFTR):c.3904A>T (p.Lys1302Ter)	CFTR (K1302*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1	GPathogenic
Select item 2680690	NM_000492.4(CFTR):c.198del (p.Pro67fs)	CFTR (P67fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680689	NM_000492.4(CFTR):c.1351G>T (p.Gly451Ter)	CFTR, CFTR-AS1 (G451*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2627368	NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)	CFTR, LOC111674477 (V1421E)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GConflicting classifications of pathogenicity
Select item 2584868	NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)	CFTR (S624fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 2577712	NM_000492.4(CFTR):c.2819_2823del (p.Thr940fs)	CFTR (T940fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 2575223	NM_000336.3(SCNN1B):c.1328T>C (p.Met443Thr)	SCNN1B (M407T +1 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 2503104	NM_000336.3(SCNN1B):c.1329G>A (p.Met443Ile)	SCNN1B (M407I +1 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1	GUncertain significance
Select item 2443046	NM_000492.4(CFTR):c.3718-1G>C	CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 2443042	NM_000336.3(SCNN1B):c.372G>T (p.Glu124Asp)	SCNN1B (E124D)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1	GUncertain significance
Select item 2136607	NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)	CFTR (S1248*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 2082996	NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)	CFTR (G1208fs)	Indel (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 2006304	NM_000492.4(CFTR):c.9del (p.Arg3fs)	CFTR (R3fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 1736923	NM_000492.4(CFTR):c.40_44del (p.Lys14fs)	CFTR (K14fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 1732049	NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)	CFTR (T382P)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GUncertain significance
Select item 1731130	NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)	CFTR (A1136fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 1724744	NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)	CFTR, LOC111674475 (L558*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GLikely pathogenic
Select item 1706062	NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter)	CFTR (W356*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 1706055	NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)	CFTR	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic
Select item 1706049	NM_000492.4(CFTR):c.498del (p.Lys166fs)	CFTR (K166fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 1706001	NM_000492.4(CFTR):c.3140-16T>A	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GPathogenic
Select item 1704259	NM_000492.4(CFTR):c.308del (p.Gly103fs)	CFTR (G103fs)	Deletion (frameshift variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 1704258	NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)	CFTR (E257*)	Single nucleotide variant (nonsense)	CFTR-related disorder +2 more	GPathogenic
Select item 1518294	NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)	CFTR (R153K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1456282	NM_000492.4(CFTR):c.1261dup (p.Thr421fs)	CFTR, CFTR-AS1 (T421fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 1449135	NM_000492.4(CFTR):c.1334del (p.Asn445fs)	CFTR, CFTR-AS1 (N445fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 1438022	NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs)	CFTR, CFTR-AS1 (S489fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 1429889	NM_000492.4(CFTR):c.2113A>G (p.Ile705Val)	CFTR (I705V)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 1343467	NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)	SCNN1B (H268R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1335207	NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr)	SCNN1B (I441T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1330378	NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs)	CFTR (G1249fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic
Select item 1323566	NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	SCNN1B (E217fs)	Duplication (frameshift variant)	Liddle syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1320029	NM_000492.4(CFTR):c.[4C>T;7A>T]	CFTR (Q2* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 1304353	NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys)	SCNN1B (R410C)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +3 more	GUncertain significance
Select item 1303165	NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys)	SCNN1B (E632K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1300168	NM_000492.4(CFTR):c.[3846G>A;3848G>T]	CFTR (W1282* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 1300167	NM_000492.4(CFTR):c.[1523T>G;3752G>A]	CFTR, CFTR-AS1 (F508C +1 more)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1300164	NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)	CFTR (G194R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1263004	NM_000336.3(SCNN1B):c.1152+43G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1256466	NM_000336.3(SCNN1B):c.1152+10T>C	SCNN1B	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive +5 more	GBenign/Likely benign
Select item 1168489	NM_000492.4(CFTR):c.1210-13del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +5 more	GBenign/Likely benign
Select item 1070544	NM_000492.4(CFTR):c.4340del (p.Val1447fs)	CFTR, LOC111674477 (V1447fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 1027585	NM_000492.4(CFTR):c.1585-2A>T	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 996084	NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met)	SCNN1B (V578M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 989360	NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn)	SCNN1B (S177N)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 973859	NM_000492.4(CFTR):c.2490+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis +1 more	GPathogenic
Select item 965976	NM_000492.4(CFTR):c.70T>G (p.Leu24Val)	CFTR (L24V)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 944877	NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer)	CFTR	Deletion (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 928981	NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)	CFTR, CFTR-AS1 (E407K)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GUncertain significance
Select item 928495	NM_000492.4(CFTR):c.234dup (p.Trp79fs)	CFTR (W79fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 917606	NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)	CFTR, LOC111674472 (S1045Y)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GLikely pathogenic
Select item 916697	NM_000492.4(CFTR):c.[1727G>C;2002C>T]	CFTR (G576A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 911238	NM_000492.4(CFTR):c.*482C>T	CFTR	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GUncertain significance
Select item 887970	NM_000336.3(SCNN1B):c.*446C>A	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GUncertain significance
Select item 887912	NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys)	SCNN1B (R597C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 887856	NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=)	SCNN1B	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 887721	NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 887720	NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=)	SCNN1B	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 887662	NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val)	SCNN1B (L250V)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 887661	NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)	SCNN1B (R206Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 887470	NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln)	SCNN1B (R156Q)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 887418	NM_000336.3(SCNN1B):c.6C>T (p.His2=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 886714	NM_000336.3(SCNN1B):c.*241G>A	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GUncertain significance
Select item 886656	NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile)	SCNN1B (T586I)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 885646	NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu)	SCNN1B (V582E)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GUncertain significance
Select item 885580	NM_000336.3(SCNN1B):c.1404+7C>T	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 885512	NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His)	SCNN1B (R410H)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +4 more	GConflicting classifications of pathogenicity

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