"Ambry Genetics"[submitter] AND "ALK"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1668158	NM_004304.5(ALK):c.4862G>A (p.Ter1621=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 3223916	NM_004304.5(ALK):c.4858C>T (p.Pro1620Ser)	ALK (P1620S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1549031	NM_004304.5(ALK):c.4857G>A (p.Gly1619=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3286014	NM_004304.5(ALK):c.4856G>A (p.Gly1619Glu)	ALK (G1619E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1743598	NM_004304.5(ALK):c.4856G>T (p.Gly1619Val)	ALK (G551V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2133402	NM_004304.5(ALK):c.4855G>A (p.Gly1619Arg)	ALK (G1619R +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 3285929	NM_004304.5(ALK):c.4852C>A (p.Pro1618Thr)	ALK (P1618T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 857975	NM_004304.5(ALK):c.4852C>T (p.Pro1618Ser)	ALK (P1618S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 3223915	NM_004304.5(ALK):c.4850A>G (p.Gln1617Arg)	ALK (Q1617R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1743524	NM_004304.5(ALK):c.4844T>G (p.Met1615Arg)	ALK (M1615R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 538244	NM_004304.5(ALK):c.4842C>T (p.Ser1614=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 2452134	NM_004304.5(ALK):c.4841G>C (p.Ser1614Thr)	ALK (S546T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 239846	NM_004304.5(ALK):c.4836G>A (p.Lys1612=)	ALK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2452105	NM_004304.5(ALK):c.4834A>C (p.Lys1612Gln)	ALK (K1612Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1743445	NM_004304.5(ALK):c.4832G>A (p.Ser1611Asn)	ALK (S1611N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 950135	NM_004304.5(ALK):c.4830A>T (p.Lys1610Asn)	ALK (K1610N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1006905	NM_004304.5(ALK):c.4826T>C (p.Leu1609Pro)	ALK (L1609P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 825209	NM_004304.5(ALK):c.4825C>G (p.Leu1609Val)	ALK (L541V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 470887	NM_004304.5(ALK):c.4824T>C (p.Ile1608=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 538292	NM_004304.5(ALK):c.4821C>G (p.Thr1607=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 538267	NM_004304.5(ALK):c.4813G>A (p.Glu1605Lys)	ALK (E1605K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 412943	NM_004304.5(ALK):c.4812C>T (p.Tyr1604=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 239845	NM_004304.5(ALK):c.4811A>G (p.Tyr1604Cys)	ALK (Y1604C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 701610	NM_004304.5(ALK):c.4809T>C (p.His1603=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1743234	NM_004304.5(ALK):c.4807C>T (p.His1603Tyr)	ALK (H535Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 404328	NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr)	ALK (A1601T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1743142	NM_004304.5(ALK):c.4798G>A (p.Gly1600Arg)	ALK (G532R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1103960	NM_004304.5(ALK):c.4797T>C (p.Pro1599=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1553058	NM_004304.5(ALK):c.4793C>T (p.Ala1598Val)	ALK (A1598V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2562270	NM_004304.5(ALK):c.4786G>T (p.Ala1596Ser)	ALK (A528S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1161640	NM_004304.5(ALK):c.4785C>A (p.Ala1595=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 239844	NM_004304.5(ALK):c.4785C>T (p.Ala1595=)	ALK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1669862	NM_004304.5(ALK):c.4779A>G (p.Leu1593=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 2586711	NM_004304.5(ALK):c.4778T>C (p.Leu1593Ser)	ALK (L525S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 847846	NM_004304.5(ALK):c.4775C>T (p.Pro1592Leu)	ALK (P1592L +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 1742989	NM_004304.5(ALK):c.4774C>A (p.Pro1592Thr)	ALK (P524T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1080507	NM_004304.5(ALK):c.4773G>A (p.Leu1591=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 700871	NM_004304.5(ALK):c.4771T>C (p.Leu1591=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 836483	NM_004304.5(ALK):c.4770C>T (p.Gly1590=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 862353	NM_004304.5(ALK):c.4768G>C (p.Gly1590Arg)	ALK (G1590R +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 538188	NM_004304.5(ALK):c.4768G>A (p.Gly1590Ser)	ALK (G1590S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 3223914	NM_004304.5(ALK):c.4766A>T (p.Gln1589Leu)	ALK (Q1589L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1742913	NM_004304.5(ALK):c.4764A>C (p.Gln1588His)	ALK (Q520H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 470886	NM_004304.5(ALK):c.4761G>C (p.Gln1587His)	ALK (Q1587H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 404343	NM_004304.5(ALK):c.4755C>G (p.Gly1585=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 1525065	NM_004304.5(ALK):c.4753G>T (p.Gly1585Cys)	ALK (G1585C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 412939	NM_004304.5(ALK):c.4752C>T (p.Tyr1584=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1122818	NM_004304.5(ALK):c.4749T>C (p.Asn1583=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1089721	NM_004304.5(ALK):c.4746C>T (p.Val1582=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1482247	NM_004304.5(ALK):c.4745T>C (p.Val1582Ala)	ALK (V1582A +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 538221	NM_004304.5(ALK):c.4744G>A (p.Val1582Ile)	ALK (V1582I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1742787	NM_004304.5(ALK):c.4743T>A (p.Asn1581Lys)	ALK (N513K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1130781	NM_004304.5(ALK):c.4743T>C (p.Asn1581=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2586699	NM_004304.5(ALK):c.4740G>C (p.Gly1580=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 538297	NM_004304.5(ALK):c.4737T>C (p.Cys1579=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1742740	NM_004304.5(ALK):c.4734T>A (p.Pro1578=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1104563	NM_004304.5(ALK):c.4734T>G (p.Pro1578=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1057192	NM_004304.5(ALK):c.4733C>T (p.Pro1578Leu)	ALK (P1578L +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 3284904	NM_004304.5(ALK):c.4732C>G (p.Pro1578Ala)	ALK (P1578A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1001771	NM_004304.5(ALK):c.4729T>C (p.Phe1577Leu)	ALK (F1577L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 566447	NM_004304.5(ALK):c.4729T>G (p.Phe1577Val)	ALK (F1577V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 1083455	NM_004304.5(ALK):c.4728C>T (p.His1576=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 1368985	NM_004304.5(ALK):c.4727A>G (p.His1576Arg)	ALK (H1576R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1742688	NM_004304.5(ALK):c.4725T>G (p.Arg1575=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 570981	NM_004304.5(ALK):c.4724G>C (p.Arg1575Pro)	ALK (R1575P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1377825	NM_004304.5(ALK):c.4723C>T (p.Arg1575Cys)	ALK (R1575C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2196240	NM_004304.5(ALK):c.4720C>A (p.Leu1574Ile)	ALK (L506I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 857842	NM_004304.5(ALK):c.4717A>G (p.Arg1573Gly)	ALK (R1573G +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 2447099	NM_004304.5(ALK):c.4716C>G (p.Phe1572Leu)	ALK (F1572L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223913	NM_004304.5(ALK):c.4712T>G (p.Leu1571Arg)	ALK (L1571R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2562274	NM_004304.5(ALK):c.4710T>A (p.Pro1570=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3286375	NM_004304.5(ALK):c.4707A>C (p.Val1569=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1742567	NM_004304.5(ALK):c.4704G>A (p.Glu1568=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1742557	NM_004304.5(ALK):c.4701G>A (p.Lys1567=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3223912	NM_004304.5(ALK):c.4698G>C (p.Met1566Ile)	ALK (M1566I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 650606	NM_004304.5(ALK):c.4698G>A (p.Met1566Ile)	ALK (M498I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1035005	NM_004304.5(ALK):c.4697T>C (p.Met1566Thr)	ALK (M1566T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 573928	NM_004304.5(ALK):c.4696A>G (p.Met1566Val)	ALK (M1566V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 757891	NM_004304.5(ALK):c.4695T>C (p.Asn1565=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 1077582	NM_004304.5(ALK):c.4692C>T (p.Ala1564=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 1084409	NM_004304.5(ALK):c.4689T>C (p.Thr1563=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 3285730	NM_004304.5(ALK):c.4688C>A (p.Thr1563Asn)	ALK (T1563N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 647536	NM_004304.5(ALK):c.4685T>G (p.Leu1562Arg)	ALK (L1562R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1742409	NM_004304.5(ALK):c.4684C>T (p.Leu1562=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1742404	NM_004304.5(ALK):c.4683G>T (p.Ser1561=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 538278	NM_004304.5(ALK):c.4683G>A (p.Ser1561=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 538223	NM_004304.5(ALK):c.4682C>T (p.Ser1561Leu)	ALK (S1561L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1742395	NM_004304.5(ALK):c.4680T>C (p.Ser1560=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1742362	NM_004304.5(ALK):c.4677C>T (p.Pro1559=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1742358	NM_004304.5(ALK):c.4677C>G (p.Pro1559=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2418613	NM_004304.5(ALK):c.4675C>T (p.Pro1559Ser)	ALK (P1559S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1742347	NM_004304.5(ALK):c.4674G>C (p.Glu1558Asp)	ALK (E1558D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1742341	NM_004304.5(ALK):c.4673A>T (p.Glu1558Val)	ALK (E1558V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223911	NM_004304.5(ALK):c.4672G>C (p.Glu1558Gln)	ALK (E1558Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 485082	NM_004304.5(ALK):c.4671A>G (p.Leu1557=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 3223910	NM_004304.5(ALK):c.4663C>G (p.Leu1555Val)	ALK (L1555V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 470882	NM_004304.5(ALK):c.4662A>T (p.Ser1554=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 703751	NM_004304.5(ALK):c.4659C>A (p.Ala1553=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 538207	NM_004304.5(ALK):c.4658C>G (p.Ala1553Gly)	ALK (A1553G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1415459	NM_004304.5(ALK):c.4657G>A (p.Ala1553Thr)	ALK (A1553T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance

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