ClinVar for MedGen (Select 41393) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375097	NM_000492.4(CFTR):c.3139+1G>C	CFTR, LOC111674472	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GLikely pathogenic
Select item 3375052	NC_000007.13:g.(117230494_117231987)_(117243837_117246727)dup	CFTR	Duplication	Cystic fibrosis	GLikely pathogenic
Select item 3374877	NM_000492.4(CFTR):c.553dup (p.Ser185fs)	CFTR (S185fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 3366763	NM_000492.4(CFTR):c.2672del (p.Asp891fs)	CFTR (D891fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 3366607	NM_000492.4(CFTR):c.2988+2del	CFTR	Deletion (splice donor variant)	Cystic fibrosis	GLikely pathogenic
Select item 3366417	NM_000492.4(CFTR):c.4374dup (p.Lys1459fs)	CFTR, LOC111674477 (K1459fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 3341327	NM_000492.4(CFTR):c.1364C>G (p.Ala455Gly)	CFTR, CFTR-AS1 (A455G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3339740	NC_000007.13:g.(117188878_117199517)_(117199710_117227792)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3339466	NC_000007.13:g.(117235113_117242879)_(117251863_117254666)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3339105	NM_000492.4(CFTR):c.1114C>T (p.Gln372Ter)	CFTR (Q372*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 3336657	NM_000492.4(CFTR):c.1435G>C (p.Glu479Gln)	CFTR, CFTR-AS1 (E479Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336656	NM_000492.4(CFTR):c.1490T>A (p.Ile497Asn)	CFTR, CFTR-AS1 (I497N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336655	NM_000492.4(CFTR):c.1508A>G (p.Lys503Arg)	CFTR, CFTR-AS1 (K503R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336654	NM_000492.4(CFTR):c.1428G>T (p.Glu476Asp)	CFTR, CFTR-AS1 (E476D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336653	NM_000492.4(CFTR):c.1562T>C (p.Ile521Thr)	CFTR, CFTR-AS1 (I521T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336652	NM_000492.4(CFTR):c.1559T>C (p.Val520Ala)	CFTR, CFTR-AS1 (V520A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336639	NM_000492.4(CFTR):c.1424T>G (p.Leu475Arg)	CFTR, CFTR-AS1 (L475R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336638	NM_000492.4(CFTR):c.1529T>G (p.Val510Gly)	CFTR, CFTR-AS1 (V510G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336637	NM_000492.4(CFTR):c.1447A>G (p.Lys483Glu)	CFTR, CFTR-AS1 (K483E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336636	NM_000492.4(CFTR):c.1574A>C (p.Gln525Pro)	CFTR, CFTR-AS1 (Q525P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336635	NM_000492.4(CFTR):c.1409T>G (p.Val470Gly)	CFTR, CFTR-AS1 (V470G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336634	NM_000492.4(CFTR):c.1398A>T (p.Ser466=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336633	NM_000492.4(CFTR):c.1534T>C (p.Tyr512His)	CFTR, CFTR-AS1 (Y512H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336547	NM_000492.4(CFTR):c.2547_2555del (p.Leu850_Tyr852del)	CFTR	Deletion (inframe_deletion)	Cystic fibrosis	GLikely pathogenic
Select item 3336520	NC_000007.13:g.(117282648_117292895)_(117308720_?)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3336349	NM_000492.4(CFTR):c.1210-1G>T	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336327	NC_000007.13:g.(117242918_117243585)_(117254768_117267575)dup	CFTR	Duplication	Cystic fibrosis	GLikely pathogenic
Select item 3336239	NC_000007.13:g.(117230494_117231987)_(117235113_117242879)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3336237	NC_000007.13:g.(117242918_117243585)_(117243837_117246727)del	CFTR	Deletion	Cystic fibrosis	GPathogenic
Select item 3336162	NM_000492.4(CFTR):c.3181G>A (p.Gly1061Arg)	CFTR, LOC111674472 (G1061R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 3336145	NM_000492.4(CFTR):c.273+1G>C	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GLikely pathogenic
Select item 3266704	NM_000492.4(CFTR):c.2898G>C (p.Thr966=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266703	NM_000492.4(CFTR):c.1963G>T (p.Ala655Ser)	CFTR (A655S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266702	NM_000492.4(CFTR):c.4428A>C (p.Gln1476His)	CFTR, LOC111674477 (Q1476H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266701	NM_000492.4(CFTR):c.1967A>C (p.Glu656Ala)	CFTR (E656A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266700	NM_000492.4(CFTR):c.2652T>A (p.Leu884=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266698	NM_000492.4(CFTR):c.2393C>T (p.Pro798Leu)	CFTR (P798L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266697	NM_000492.4(CFTR):c.2664T>C (p.Pro888=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266696	NM_000492.4(CFTR):c.2105T>C (p.Leu702Pro)	CFTR (L702P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266695	NM_000492.4(CFTR):c.3127C>T (p.Leu1043=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266694	NM_000492.4(CFTR):c.3307A>G (p.Ile1103Val)	CFTR, LOC111674472 (I1103V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266693	NM_000492.4(CFTR):c.4081C>T (p.Leu1361Phe)	CFTR (L1361F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266692	NM_000492.4(CFTR):c.1508A>C (p.Lys503Thr)	CFTR, CFTR-AS1 (K503T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266691	NM_000492.4(CFTR):c.3394A>G (p.Ile1132Val)	CFTR (I1132V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266689	NM_000492.4(CFTR):c.738G>C (p.Lys246Asn)	CFTR (K246N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266688	NM_000492.4(CFTR):c.2501T>C (p.Phe834Ser)	CFTR (F834S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266687	NM_000492.4(CFTR):c.1639A>G (p.Thr547Ala)	CFTR, LOC111674475 (T547A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266686	NM_000492.4(CFTR):c.951G>A (p.Val317=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266685	NM_000492.4(CFTR):c.3635T>C (p.Val1212Ala)	CFTR (V1212A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266684	NM_000492.4(CFTR):c.2858T>C (p.Leu953Ser)	CFTR (L953S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266683	NM_000492.4(CFTR):c.3456T>C (p.Asp1152=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266682	NM_000492.4(CFTR):c.3555C>G (p.Gly1185=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266681	NM_000492.4(CFTR):c.2276C>T (p.Pro759Leu)	CFTR (P759L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266679	NM_000492.4(CFTR):c.145C>G (p.Leu49Val)	CFTR (L49V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266678	NM_000492.4(CFTR):c.4340T>C (p.Val1447Ala)	CFTR, LOC111674477 (V1447A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266677	NM_000492.4(CFTR):c.1011C>T (p.Phe337=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266676	NM_000492.4(CFTR):c.2479G>A (p.Glu827Lys)	CFTR (E827K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266675	NM_000492.4(CFTR):c.1608A>G (p.Lys536=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266674	NM_000492.4(CFTR):c.3111A>G (p.Ser1037=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266673	NM_000492.4(CFTR):c.536A>G (p.Gln179Arg)	CFTR (Q179R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266672	NM_000492.4(CFTR):c.1111A>G (p.Ile371Val)	CFTR (I371V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266671	NM_000492.4(CFTR):c.4373G>T (p.Cys1458Phe)	CFTR, LOC111674477 (C1458F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266670	NM_000492.4(CFTR):c.164+19T>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3266668	NM_000492.4(CFTR):c.659A>T (p.Gln220Leu)	CFTR (Q220L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266667	NM_000492.4(CFTR):c.649G>C (p.Glu217Gln)	CFTR (E217Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266666	NM_000492.4(CFTR):c.4335C>G (p.Asp1445Glu)	CFTR, LOC111674477 (D1445E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266665	NM_000492.4(CFTR):c.2073A>T (p.Gly691=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266664	NM_000492.4(CFTR):c.3646A>G (p.Thr1216Ala)	CFTR (T1216A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266663	NM_000492.4(CFTR):c.870-15T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3266662	NM_000492.4(CFTR):c.392T>A (p.Phe131Tyr)	CFTR (F131Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266661	NM_000492.4(CFTR):c.3530A>C (p.Lys1177Thr)	CFTR (K1177T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266660	NM_000492.4(CFTR):c.3537C>T (p.Thr1179=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266659	NM_000492.4(CFTR):c.2458A>T (p.Ile820Leu)	CFTR (I820L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266657	NM_000492.4(CFTR):c.487A>C (p.Lys163Gln)	CFTR (K163Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266656	NM_000492.4(CFTR):c.2830G>A (p.Val944Met)	CFTR (V944M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266655	NM_000492.4(CFTR):c.3465C>G (p.Ser1155Arg)	CFTR (S1155R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266654	NM_000492.4(CFTR):c.4249G>C (p.Glu1417Gln)	CFTR, LOC111674477 (E1417Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266653	NM_000492.4(CFTR):c.245T>C (p.Met82Thr)	CFTR (M82T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266652	NM_000492.4(CFTR):c.3594G>A (p.Val1198=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266650	NM_000492.4(CFTR):c.3163C>T (p.Leu1055Phe)	CFTR, LOC111674472 (L1055F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266649	NM_000492.4(CFTR):c.1588A>G (p.Ile530Val)	CFTR, LOC111674475 (I530V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266648	NM_000492.4(CFTR):c.2517C>A (p.Ser839Arg)	CFTR (S839R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266647	NM_000492.4(CFTR):c.2680A>T (p.Asn894Tyr)	CFTR (N894Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266646	NM_000492.4(CFTR):c.2791T>C (p.Phe931Leu)	CFTR (F931L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely benign
Select item 3266645	NM_000492.4(CFTR):c.2565C>T (p.Val855=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266644	NM_000492.4(CFTR):c.988G>C (p.Gly330Arg)	CFTR (G330R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266643	NM_000492.4(CFTR):c.7A>C (p.Arg3=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266642	NM_000492.4(CFTR):c.99A>G (p.Glu33=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266640	NM_000492.4(CFTR):c.1499G>T (p.Gly500Val)	CFTR, CFTR-AS1 (G500V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266639	NM_000492.4(CFTR):c.2592T>C (p.Ile864=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266638	NM_000492.4(CFTR):c.3263A>G (p.Asn1088Ser)	CFTR, LOC111674472 (N1088S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266636	NM_000492.4(CFTR):c.3747G>C (p.Gly1249=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3266635	NM_000492.4(CFTR):c.1869C>A (p.Ser623Arg)	CFTR (S623R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266634	NM_000492.4(CFTR):c.3464G>A (p.Ser1155Asn)	CFTR (S1155N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266632	NM_000492.4(CFTR):c.3348C>G (p.Phe1116Leu)	CFTR, LOC111674472 (F1116L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266631	NM_000492.4(CFTR):c.3462T>A (p.Asp1154Glu)	CFTR (D1154E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266630	NM_000492.4(CFTR):c.2021A>G (p.Asp674Gly)	CFTR (D674G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266629	NM_000492.4(CFTR):c.618G>C (p.Leu206Phe)	CFTR (L206F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3266628	NM_000492.4(CFTR):c.4024G>T (p.Gly1342Trp)	CFTR (G1342W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3266627	NM_000492.4(CFTR):c.3383G>A (p.Arg1128Lys)	CFTR (R1128K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance

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