238[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 155287	GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 154217	GRCh38/hg38 2p23.2(chr2:28561270-29446956)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 149082	GRCh38/hg38 2p23.2(chr2:28574111-29442195)x3	ALK, CLIP4 +35 more	Copy number gain	See cases	GUncertain significance
Select item 335676	NM_004304.5(ALK):c.*415G>A	ALK	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma Susceptibility	GUncertain significance
Select item 899148	NM_004304.5(ALK):c.*407A>C	ALK	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 895024	NM_004304.5(ALK):c.*403T>C	ALK	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 335677	NM_004304.5(ALK):c.*298C>T	ALK	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 3	GBenign
Select item 895025	NM_004304.5(ALK):c.*246G>A	ALK	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 335678	NM_004304.5(ALK):c.*189T>C	ALK	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 335679	NM_004304.5(ALK):c.*185C>T	ALK	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 335680	NM_004304.5(ALK):c.*111C>T	ALK	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335681	NM_004304.5(ALK):c.62_65dup	ALK	Duplication (3 prime UTR variant)	Neuroblastoma Susceptibility	GUncertain significance
Select item 335682	NM_004304.5(ALK):c.61_64dup	ALK	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335683	NM_004304.5(ALK):c.*63A>G	ALK	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 335684	NM_004304.5(ALK):c.*53G>C	ALK	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335685	NM_004304.5(ALK):c.*45G>A	ALK	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 3	GBenign
Select item 947158	NM_004304.5(ALK):c.4860_*12del (p.Ter1621LeuextTer?)	ALK	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 538313	NC_000002.11:g.(?_29416084)_(29754988_?)dup	ALK, LOC105374389 +2 more	Duplication	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 470729	Single allele	LOC122756683, ALK	Duplication	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 2706000	NM_004304.5(ALK):c.4861_*4del (p.Ter1621GlyextTer?)	ALK	Deletion (frameshift variant +1 more)	Neuroblastoma, susceptibility to, 3	GUncertain significance
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 1383984	NM_004304.5(ALK):c.4861T>C (p.Ter1621Arg)	ALK	Single nucleotide variant (stop lost)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 2156658	NM_004304.5(ALK):c.4860C>G (p.Pro1620=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1595801	NM_004304.5(ALK):c.4860C>T (p.Pro1620=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 954390	NM_004304.5(ALK):c.4859C>T (p.Pro1620Leu)	ALK (P552L +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
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 1743598	NM_004304.5(ALK):c.4856G>T (p.Gly1619Val)	ALK (G551V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +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 1038369	NM_004304.5(ALK):c.4828_4854dup (p.Lys1610_Pro1618dup)	ALK	Duplication (inframe_insertion)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 857975	NM_004304.5(ALK):c.4852C>T (p.Pro1618Ser)	ALK (P1618S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2736119	NM_004304.5(ALK):c.4851G>T (p.Gln1617His)	ALK (Q1617H +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	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 1403268	NM_004304.5(ALK):c.4849C>T (p.Gln1617Ter)	ALK (Q549* +1 more)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1080478	NM_004304.5(ALK):c.4848C>T (p.Asn1616=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 404334	NM_004304.5(ALK):c.4845G>A (p.Met1615Ile)	ALK (M1615I +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	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 1007264	NM_004304.5(ALK):c.4844T>C (p.Met1615Thr)	ALK (M1615T +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 538244	NM_004304.5(ALK):c.4842C>T (p.Ser1614=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +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 2914298	NM_004304.5(ALK):c.4840A>T (p.Ser1614Cys)	ALK (S1614C +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1525474	NM_004304.5(ALK):c.4839T>G (p.Asn1613Lys)	ALK (N545K +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1106151	NM_004304.5(ALK):c.4839T>C (p.Asn1613=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 2828348	NM_004304.5(ALK):c.4836G>T (p.Lys1612Asn)	ALK (K1612N +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 582038	NM_004304.5(ALK):c.4833_4836del (p.Ser1611fs)	ALK (S1611fs +1 more)	Deletion (frameshift variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 422630	NM_004304.5(ALK):c.4836G>C (p.Lys1612Asn)	ALK (K1612N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 944371	NM_004304.5(ALK):c.4832G>T (p.Ser1611Ile)	ALK (S1611I +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 2419589	NM_004304.5(ALK):c.4830A>G (p.Lys1610=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 950135	NM_004304.5(ALK):c.4830A>T (p.Lys1610Asn)	ALK (K1610N +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +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)	Neuroblastoma, susceptibility to, 3 +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	GLikely benign
Select item 538292	NM_004304.5(ALK):c.4821C>G (p.Thr1607=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 723676	NM_004304.5(ALK):c.4815G>A (p.Glu1605=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 538267	NM_004304.5(ALK):c.4813G>A (p.Glu1605Lys)	ALK (E1605K +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 2116912	NM_004304.5(ALK):c.4812C>G (p.Tyr1604Ter)	ALK (Y536* +1 more)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 412943	NM_004304.5(ALK):c.4812C>T (p.Tyr1604=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +2 more	GLikely benign
Select item 404319	NM_004304.5(ALK):c.4812C>A (p.Tyr1604Ter)	ALK (Y1604* +1 more)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
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 +2 more	GUncertain significance
Select item 2571762	NM_004304.5(ALK):c.4810T>C (p.Tyr1604His)	ALK (Y1604H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 701610	NM_004304.5(ALK):c.4809T>C (p.His1603=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +1 more	GConflicting classifications of pathogenicity
Select item 960664	NM_004304.5(ALK):c.4808A>T (p.His1603Leu)	ALK (H1603L +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1743234	NM_004304.5(ALK):c.4807C>T (p.His1603Tyr)	ALK (H535Y +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 2852524	NM_004304.5(ALK):c.4806T>G (p.Gly1602=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 2703877	NM_004304.5(ALK):c.4805G>C (p.Gly1602Ala)	ALK (G1602A +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1450788	NM_004304.5(ALK):c.4804G>A (p.Gly1602Ser)	ALK (G1602S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 404328	NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr)	ALK (A1601T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2157726	NM_004304.5(ALK):c.4800A>G (p.Gly1600=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 1743142	NM_004304.5(ALK):c.4798G>A (p.Gly1600Arg)	ALK (G532R +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 1998162	NM_004304.5(ALK):c.4797T>G (p.Pro1599=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
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 133477	NM_004304.5(ALK):c.4796C>A (p.Pro1599His)	ALK (P1599H +1 more)	Single nucleotide variant (missense variant)	ALK-related condition +3 more	GConflicting classifications of pathogenicity
Select item 404336	NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)	ALK (P1599S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1553058	NM_004304.5(ALK):c.4793C>T (p.Ala1598Val)	ALK (A1598V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GLikely benign
Select item 2064533	NM_004304.5(ALK):c.4779_4789del (p.Leu1593fs)	ALK (L525fs +1 more)	Deletion (frameshift variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 2047712	NM_004304.5(ALK):c.4789A>G (p.Thr1597Ala)	ALK (T529A +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
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 839754	NM_004304.5(ALK):c.4786G>A (p.Ala1596Thr)	ALK (A1596T +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	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)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 2839246	NM_004304.5(ALK):c.4784C>A (p.Ala1595Asp)	ALK (A1595D +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1720003	NM_004304.5(ALK):c.4784C>T (p.Ala1595Val)	ALK (A1595V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1035773	NM_004304.5(ALK):c.4783G>T (p.Ala1595Ser)	ALK (A527S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1015251	NM_004304.5(ALK):c.4780G>A (p.Glu1594Lys)	ALK (E1594K +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
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 1090879	NM_004304.5(ALK):c.4776C>T (p.Pro1592=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 847846	NM_004304.5(ALK):c.4775C>T (p.Pro1592Leu)	ALK (P1592L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 1929144	NM_004304.5(ALK):c.4773G>T (p.Leu1591Phe)	ALK (L523F +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	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)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 836483	NM_004304.5(ALK):c.4770C>T (p.Gly1590=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign

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