"Genome-Nilou Lab"[submitter] AND "CFTR-AS1"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495892	NM_000492.4(CFTR):c.1210-6del	CFTR, CFTR-AS1	Deletion (intron variant)	not specified +2 more	GUncertain significance
Select item 242535	NM_000492.3(CFTR):c.1210-12T[5]	CFTR, CFTR-AS1	Deletion (intron variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +6 more	GConflicting classifications of pathogenicity
Select item 178713	NM_000492.4(CFTR):c.1210-11T>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic; other
Select item 487376	NM_000492.4(CFTR):c.1211del	CFTR-AS1, CFTR	Deletion (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 495893	NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg)	CFTR, CFTR-AS1 (G404R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 928981	NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)	CFTR, CFTR-AS1 (E407K)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 53219	NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)	CFTR, CFTR-AS1 (E407V)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 281883	NM_000492.4(CFTR):c.1227T>C (p.Phe409=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 193592	NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)	CFTR-AS1, CFTR (N417K)	Single nucleotide variant (missense variant)	CFTR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 53224	NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)	CFTR-AS1, CFTR (N418S)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 76610	NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)	CFTR, CFTR-AS1 (S422F)	Single nucleotide variant (missense variant)	CFTR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 286406	NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)	CFTR, CFTR-AS1 (G424S)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 863689	NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp)	CFTR, CFTR-AS1 (G437D)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 193594	NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)	CFTR, CFTR-AS1 (T438A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +3 more	GConflicting classifications of pathogenicity
Select item 53226	NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)	CFTR, CFTR-AS1 (P439S)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR, CFTR-AS1 (D443Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 551988	NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	CFTR, CFTR-AS1 (I444T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 526015	NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr)	CFTR, CFTR-AS1 (I448T)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 411125	NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)	CFTR, CFTR-AS1 (A455V)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 193593	NM_000492.4(CFTR):c.1365G>T (p.Ala455=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 35820	NM_000492.4(CFTR):c.1365G>A (p.Ala455=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 554212	NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)	CFTR-AS1, CFTR (A457P)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 495896	NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)	CFTR, CFTR-AS1 (T465N)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 53246	NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	CFTR, CFTR-AS1 (L467F)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 7130	NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	CFTR, CFTR-AS1 (V470M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 455762	NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser)	CFTR, CFTR-AS1 (P477S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 289873	NM_000492.4(CFTR):c.1430C>A (p.Pro477His)	CFTR, CFTR-AS1 (P477H)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 439478	NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)	CFTR-AS1, CFTR (E479D)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GUncertain significance
Select item 53254	NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	CFTR, CFTR-AS1 (G480S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 597062	NM_000492.4(CFTR):c.1446T>A (p.Ile482=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 53257	NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)	CFTR, CFTR-AS1 (H484Y)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 358731	NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr)	CFTR, CFTR-AS1 (S485T)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 555390	NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)	CFTR, CFTR-AS1 (C491F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 439055	NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)	CFTR-AS1, CFTR (W496R)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 632747	NM_000492.4(CFTR):c.1492A>G (p.Met498Val)	CFTR-AS1, CFTR (M498V)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 495898	NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)	CFTR, CFTR-AS1 (P499S)	Single nucleotide variant (missense variant)	CFTR-related disorder +2 more	GUncertain significance
Select item 290277	NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)	CFTR, CFTR-AS1 (G500D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 53271	NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn)	CFTR-AS1, CFTR (I502N)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 7131	NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)	CFTR, CFTR-AS1 (I506V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +3 more	GConflicting classifications of pathogenicity
Select item 53276	NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	CFTR, CFTR-AS1 (I506T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 698266	NM_000492.4(CFTR):c.1518C>A (p.Ile506=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7126	NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	CFTR, CFTR-AS1 (F508C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 256249	NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +2 more	GConflicting classifications of pathogenicity
Select item 35825	NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 659442	NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)	CFTR, CFTR-AS1 (C524R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 495901	NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)	CFTR, CFTR-AS1 (C524Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 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)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 502030	NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)	CFTR, CFTR-AS1 (E528K)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 53289	NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp)	CFTR, CFTR-AS1 (E528D)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity

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Items: 51