"Eurofins Ntd Llc (ga)"[submitter] AND "CFTR-AS1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291285	NM_000492.4(CFTR):c.1210-32T>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 502598	NM_000492.4(CFTR):c.1210-15G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 291054	NM_000492.4(CFTR):c.1210-13_1210-10del	CFTR, CFTR-AS1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193590	NM_000492.4(CFTR):c.1210-14_1210-13insTG	CFTR-AS1, CFTR	Insertion (intron variant)	not specified	GBenign
Select item 162962	NM_000492.4(CFTR):c.1210-13G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 161188	NM_000492.3(CFTR):c.1210-12T[9]	CFTR, CFTR-AS1	Duplication (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 242535	NM_000492.3(CFTR):c.1210-12T[5]	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +7 more	GConflicting classifications of pathogenicity
Select item 178713	NM_000492.4(CFTR):c.1210-11T>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity; other
Select item 281883	NM_000492.4(CFTR):c.1227T>C (p.Phe409=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 502578	NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu)	CFTR, CFTR-AS1 (K411E)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 281173	NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)	CFTR, CFTR-AS1 (A412fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 193592	NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)	CFTR, CFTR-AS1 (N417K)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 193588	NM_000492.4(CFTR):c.1254T>C (p.Asn418=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis +1 more	GBenign/Likely benign
Select item 286406	NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)	CFTR, CFTR-AS1 (G424S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 more	GUncertain significance
Select item 193594	NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)	CFTR, CFTR-AS1 (T438A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 188958	NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	CFTR, CFTR-AS1 (I444fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR, CFTR-AS1 (D443Y)	Single nucleotide variant (missense variant)	not specified +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 193589	NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del)	CFTR, CFTR-AS1 (L454del)	Microsatellite (inframe_deletion)	not specified	GConflicting classifications of pathogenicity
Select item 411125	NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)	CFTR, CFTR-AS1 (A455V)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 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)	Cystic fibrosis +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)	Hereditary pancreatitis +5 more	GBenign/Likely benign
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 237854	NM_000492.4(CFTR):c.1393-42G>A	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +3 more	GBenign
Select item 35822	NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	CFTR, CFTR-AS1 (S466*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 35823	NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	CFTR, CFTR-AS1 (L467P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 132146	NM_000492.4(CFTR):c.1408= (p.Val470=)	CFTR, CFTR-AS1	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 7130	NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	CFTR, CFTR-AS1 (V470M)	Single nucleotide variant (missense variant)	CFTR-related disorders +4 more	GBenign/Likely benign
Select item 289873	NM_000492.4(CFTR):c.1430C>A (p.Pro477His)	CFTR, CFTR-AS1 (P477H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286994	NM_000492.4(CFTR):c.1436A>C (p.Glu479Ala)	CFTR, CFTR-AS1 (E479A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7187	NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 597062	NM_000492.4(CFTR):c.1446T>A (p.Ile482=)	CFTR-AS1, CFTR	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 7107	NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	CFTR, CFTR-AS1 (Q493*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 498415	NM_000492.4(CFTR):c.1479G>C (p.Gln493His)	CFTR, CFTR-AS1 (Q493H)	Single nucleotide variant (missense variant)	not provided	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 +3 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 7106	NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	CFTR, CFTR-AS1 (I507del)	Microsatellite (inframe_deletion)	Cystic fibrosis	GPathogenic
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	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)	CFTR-related disorders +5 more	GConflicting classifications of pathogenicity
Select item 595026	NM_000492.4(CFTR):c.1534T>A (p.Tyr512Asn)	CFTR, CFTR-AS1 (Y512N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596977	NM_000492.4(CFTR):c.1552A>G (p.Arg518Gly)	CFTR-AS1, CFTR (R518G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 35825	NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 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)	CFTR-related condition +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)	not provided +1 more	GUncertain significance
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis +6 more	GConflicting classifications of pathogenicity

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Items: 48