ClinVar for MedGen (Select 98021) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 355

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572408	NM_000492.4(CFTR):c.107A>C (p.Asp36Ala)	CFTR (D36A)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GUncertain significance
Select item 1709997	NM_000492.4(CFTR):c.44T>A (p.Leu15His)	CFTR (L15H)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GConflicting classifications of pathogenicity
Select item 1709585	NM_000492.4(CFTR):c.1369G>A (p.Ala457Thr)	CFTR, CFTR-AS1 (A457T)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GUncertain significance
Select item 1691298	NM_000492.4(CFTR):c.1825C>T (p.His609Tyr)	CFTR (H609Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GLikely pathogenic
Select item 1518294	NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)	CFTR (R153K)	Single nucleotide variant (missense variant)	CFTR-related condition +6 more	GConflicting classifications of pathogenicity
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 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 1210379	NM_000492.4(CFTR):c.646T>C (p.Trp216Arg)	CFTR (W216R)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GUncertain significance
Select item 1210378	NM_000492.4(CFTR):c.184G>A (p.Ala62Thr)	CFTR, LOC113664106 (A62T)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GUncertain significance
Select item 1210377	NM_000492.4(CFTR):c.682G>T (p.Gly228Cys)	CFTR (G228C)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GUncertain significance
Select item 1210376	NM_000492.4(CFTR):c.593C>T (p.Ala198Val)	CFTR (A198V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1210375	NM_000492.4(CFTR):c.436C>T (p.His146Tyr)	CFTR (H146Y)	Single nucleotide variant (missense variant)	CFTR-related condition +2 more	GUncertain significance
Select item 1168489	NM_000492.4(CFTR):c.1210-13del	CFTR, CFTR-AS1	Deletion (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 1029876	NM_000492.4(CFTR):c.490-25A>G	CFTR	Single nucleotide variant (intron variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GUncertain significance
Select item 1029874	NM_000492.4(CFTR):c.389T>C (p.Leu130Pro)	CFTR (L130P)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GUncertain significance
Select item 977735	NM_000492.4(CFTR):c.[220C>T;3808G>A]	CFTR (D1270N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 965976	NM_000492.4(CFTR):c.70T>G (p.Leu24Val)	CFTR (L24V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GUncertain significance
Select item 928981	NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)	CFTR, CFTR-AS1 (E407K)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
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)	CFTR-related disorders +4 more	GUncertain significance
Select item 911099	NM_000492.4(CFTR):c.1602A>G (p.Ala534=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	CFTR-related disorders +2 more	GConflicting classifications of pathogenicity
Select item 870319	NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]	CFTR, CFTR-AS1 (G576A +2 more)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 852701	NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile)	LOC111674472, CFTR (M1101I)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 840302	NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)	CFTR (D1312Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 820807	NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)	CFTR (P718R)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 818610	NM_000492.4(CFTR):c.1210-15del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +4 more	GLikely benign
Select item 818121	NM_000492.4(CFTR):c.[1210-34TG[12];1210-9_1210-6del]	CFTR, CFTR-AS1	Microsatellite (intron variant)	Cystic fibrosis	GPathogenic
Select item 813448	NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)	CFTR (E1266*)	Single nucleotide variant (nonsense)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 813401	NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)	CFTR (S641fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 813400	NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)	CFTR (G85*)	Single nucleotide variant (nonsense)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 813399	NM_000492.4(CFTR):c.179_180del (p.Glu60fs)	LOC113664106, CFTR (E60fs)	Microsatellite (frameshift variant)	Cystic fibrosis +1 more	GLikely pathogenic
Select item 811961	NM_000492.4(CFTR):c.127G>A (p.Val43Ile)	CFTR (V43I)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 811080	NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)	CFTR (S895T)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 801154	NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)	LOC111674472, CFTR (F1107L)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 698266	NM_000492.4(CFTR):c.1518C>A (p.Ile506=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 691633	NM_001079858.3(ADGRG2):c.1731_1839+373del	ADGRG2	Deletion (splice acceptor variant +1 more)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPathogenic
Select item 691632	NM_001079858.3(ADGRG2):c.1013del (p.Pro338fs)	ADGRG2 (P300fs +7 more)	Deletion (frameshift variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPathogenic
Select item 691631	NM_001079858.3(ADGRG2):c.1460del (p.Gly487fs)	ADGRG2 (G449fs +7 more)	Deletion (frameshift variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPathogenic
Select item 691630	NM_001079858.3(ADGRG2):c.251C>G (p.Ser84Ter)	ADGRG2 (S60* +4 more)	Single nucleotide variant (nonsense)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPathogenic
Select item 691629	NM_001079858.3(ADGRG2):c.2096dup (p.Phe700fs)	ADGRG2 (F662fs +7 more)	Duplication (frameshift variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPathogenic
Select item 691628	NM_001079858.3(ADGRG2):c.2473C>T (p.Arg825Ter)	ADGRG2 (R787* +7 more)	Single nucleotide variant (nonsense)	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPathogenic
Select item 647129	NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)	CFTR (V855I)	Indel (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 634837	NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]	CFTR, CFTR-AS1 +1 more	Deletion (inframe_deletion +1 more)	Cystic fibrosis	GPathogenic
Select item 634835	NM_000492.3(CFTR):c.[1397C>G;3209G>A]	CFTR, CFTR-AS1 +1 more (S466* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 632754	NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)	CFTR (T164A)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 619674	NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)	CFTR (F575Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 618964	NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)	CFTR, LOC111674472 (T1036I)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 618946	NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)	CFTR, CFTR-AS1 (S434*)	Single nucleotide variant (nonsense)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GPathogenic
Select item 618905	NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)	CFTR, LOC111674472 (W1098C)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 598723	NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp)	CFTR (G1237D)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +4 more	GUncertain significance
Select item 598095	NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)	CFTR, LOC111674475 (I539T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 596906	NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)	CFTR (M952I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596174	NM_000492.4(CFTR):c.489+87A>G	CFTR	Single nucleotide variant (intron variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 593277	NM_000492.4(CFTR):c.137C>T (p.Ala46Val)	CFTR (A46V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 573871	NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)	CFTR (R785Q)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more	GUncertain significance
Select item 572004	NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)	CFTR (A309T)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more	GUncertain significance
Select item 568739	NM_000492.4(CFTR):c.2627C>T (p.Ala876Val)	CFTR (A876V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 558578	NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)	CFTR, LOC111674477 (E1433*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 557623	NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)	CFTR (W882fs)	Microsatellite (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 557448	NM_000492.4(CFTR):c.1766+2T>A	CFTR	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 555883	NM_000492.4(CFTR):c.2822del (p.Leu941fs)	CFTR (L941fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 555228	NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)	CFTR (R1162Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 554875	NM_000492.4(CFTR):c.870-1G>C	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 554829	NM_000492.4(CFTR):c.92G>A (p.Arg31His)	CFTR (R31H)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GUncertain significance
Select item 552958	NM_000492.4(CFTR):c.4243-2A>G	CFTR, LOC111674477	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 552690	NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)	CFTR, CFTR-AS1 (E527G)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 552594	NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)	CFTR (V1293I)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GUncertain significance
Select item 551560	NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)	CFTR (G1127E)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 550836	NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)	CFTR (F650L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 550522	NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)	CFTR (C1344S)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 549991	NM_000492.4(CFTR):c.3468+6T>C	CFTR	Single nucleotide variant	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GUncertain significance
Select item 502030	NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)	CFTR, CFTR-AS1 (E528K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 more	GUncertain significance
Select item 497611	NM_000492.4(CFTR):c.416A>C (p.His139Pro)	CFTR (H139P)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +4 more	GUncertain significance
Select item 497599	NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)	CFTR (G1173S)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GConflicting classifications of pathogenicity
Select item 495953	NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	CFTR (F191V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 495946	NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)	CFTR (K14I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 495930	NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)	CFTR, LOC111674472 (Y1092H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 495928	NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	CFTR (V11I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 495927	NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)	CFTR, LOC111674472 (I1051V)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 495920	NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu)	CFTR (F992L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 495918	NM_000492.4(CFTR):c.2938A>G (p.Ile980Val)	CFTR (I980V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 495915	NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr)	CFTR (P936T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 495905	NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)	CFTR (M645K)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 495896	NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)	CFTR, CFTR-AS1 (T465N)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 495888	NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)	CFTR (N396T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 495887	NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)	CFTR (T388M)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 492871	NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)	CFTR (K381*)	Single nucleotide variant (nonsense)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GPathogenic/Likely pathogenic
Select item 487393	NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)	CFTR (N386fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 455782	NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)	CFTR (R170C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 455772	NM_000492.4(CFTR):c.2812G>C (p.Val938Leu)	CFTR (V938L)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +4 more	GUncertain significance
Select item 455766	NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)	CFTR (G817V)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 439480	NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)	CFTR (A1217V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GUncertain significance
Select item 439478	NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)	CFTR, CFTR-AS1 (E479D)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 439069	NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs)	CFTR	Indel	not provided +2 more	GPathogenic/Likely pathogenic
Select item 439054	NM_000492.4(CFTR):c.1469del (p.Phe490fs)	CFTR, CFTR-AS1 (F490fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 416594	NM_000492.4(CFTR):c.1679+9C>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 411123	NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)	CFTR, LOC111674472 (T1086S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GUncertain significance
Select item 411120	NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)	CFTR (Y122C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 411119	NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)	CFTR (R851Q)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 411118	NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)	CFTR (G213E)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance

<< First< Prev

Page of 4