"Ambry Genetics"[submitter] AND "LOC111674475"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2587604	NM_000492.4(CFTR):c.1585-15T>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 35828	NM_000492.4(CFTR):c.1585-8G>A	LOC111674475, CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 1539498	NM_000492.4(CFTR):c.1585-7G>A	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
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 53290	NM_000492.4(CFTR):c.1585-2A>G	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
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 1775995	NM_000492.4(CFTR):c.1595A>G (p.Lys532Arg)	CFTR, LOC111674475 (K532R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 495902	NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser)	CFTR, LOC111674475 (A534S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7173	NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)	CFTR, LOC111674475	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 911099	NM_000492.4(CFTR):c.1602A>G (p.Ala534=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +2 more	GConflicting classifications of pathogenicity
Select item 1776226	NM_000492.4(CFTR):c.1603G>A (p.Glu535Lys)	CFTR, LOC111674475 (E535K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1776268	NM_000492.4(CFTR):c.1605G>A (p.Glu535=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 595238	NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)	CFTR, LOC111674475 (K536E)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	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 2447411	NM_000492.4(CFTR):c.1610A>G (p.Asp537Gly)	CFTR, LOC111674475 (D537G)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 1776398	NM_000492.4(CFTR):c.1611C>T (p.Asp537=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2562516	NM_000492.4(CFTR):c.1612A>C (p.Asn538His)	CFTR, LOC111674475 (N538H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231830	NM_000492.4(CFTR):c.1613A>G (p.Asn538Ser)	CFTR, LOC111674475 (N538S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1686560	NM_000492.4(CFTR):c.1614T>A (p.Asn538Lys)	CFTR, LOC111674475 (N538K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 801150	NM_000492.4(CFTR):c.1618G>A (p.Val540Ile)	CFTR, LOC111674475 (V540I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2904283	NM_000492.4(CFTR):c.1619T>C (p.Val540Ala)	CFTR, LOC111674475 (V540A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 2562518	NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)	CFTR, LOC111674475 (G542E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1776750	NM_000492.4(CFTR):c.1629A>G (p.Glu543=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 555335	NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)	CFTR, LOC111674475 (G544S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1141267	NM_000492.4(CFTR):c.1632T>G (p.Gly544=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2587619	NM_000492.4(CFTR):c.1636A>C (p.Ile546Leu)	CFTR, LOC111674475 (I546L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1640056	NM_000492.4(CFTR):c.1638C>T (p.Ile546=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
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 1777031	NM_000492.4(CFTR):c.1640C>G (p.Thr547Arg)	CFTR, LOC111674475 (T547R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1777083	NM_000492.4(CFTR):c.1643_1644delinsCT (p.Leu548Pro)	CFTR, LOC111674475 (L548P)	Indel (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231831	NM_000492.4(CFTR):c.1644G>A (p.Leu548=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1777120	NM_000492.4(CFTR):c.1644G>T (p.Leu548=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 7116	NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	CFTR, LOC111674475 (S549N)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 1559542	NM_000492.4(CFTR):c.1647T>C (p.Ser549=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 40190	NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	CFTR, LOC111674475 (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 53312	NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)	CFTR, LOC111674475 (G550*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7142	NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	CFTR, LOC111674475 (G551S)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7120	NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	CFTR, LOC111674475 (G551D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7201	NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)	CFTR, LOC111674475 (Q552*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1331723	NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro)	CFTR, LOC111674475 (Q552P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1777355	NM_000492.4(CFTR):c.1656A>G (p.Gln552=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 53322	NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly)	CFTR, LOC111674475 (R553G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1777490	NM_000492.4(CFTR):c.1661C>G (p.Ala554Gly)	CFTR, LOC111674475 (A554G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2567901	NM_000492.4(CFTR):c.1662A>G (p.Ala554=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1777570	NM_000492.4(CFTR):c.1666A>C (p.Ile556Leu)	CFTR, LOC111674475 (I556L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7196	NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	CFTR, LOC111674475 (I556V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1153176	NM_000492.4(CFTR):c.1668T>C (p.Ile556=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1777639	NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)	CFTR, LOC111674475 (S557T)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 35829	NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)	CFTR, LOC111674475 (L558S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1110814	NM_000492.4(CFTR):c.1674A>G (p.Leu558=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 7123	NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	CFTR, LOC111674475 (A559T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7156	NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)	LOC111674475, CFTR (R560K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7113	NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	CFTR, LOC111674475 (R560T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 416594	NM_000492.4(CFTR):c.1679+9C>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2561385	NM_000492.4(CFTR):c.1679+11A>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2447406	NM_000492.4(CFTR):c.1679+17T>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 53334	NM_000492.4(CFTR):c.1679+18G>A	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +2 more	GConflicting classifications of pathogenicity

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Items: 60