57679[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	MAP2, MARCHF4 +1702 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935810, LOC129935811 +1686 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1664 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 58817	GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1	ALS2, C2CD6 +11 more	Copy number loss	See cases	GPathogenic
Select item 144725	GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3	ALS2, CDK15 +25 more	Copy number gain	See cases	GUncertain significance
Select item 333570	NM_020919.4(ALS2):c.*1538C>G	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 899008	NM_020919.4(ALS2):c.*1533C>T	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 894875	NM_020919.4(ALS2):c.*1501A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 894876	NM_020919.4(ALS2):c.*1398C>A	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 894877	NM_020919.4(ALS2):c.*1328G>T	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 894878	NM_020919.4(ALS2):c.*1259A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 333571	NM_020919.4(ALS2):c.*1249G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 896319	NM_020919.4(ALS2):c.*1219C>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333572	NM_020919.4(ALS2):c.*1202C>T	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GBenign
Select item 333573	NM_020919.4(ALS2):c.*1100A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic Lateral Sclerosis, Recessive +1 more	GUncertain significance
Select item 896320	NM_020919.4(ALS2):c.*1093C>T	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 897941	NM_020919.4(ALS2):c.*1079A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333574	NM_020919.4(ALS2):c.*1004G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333575	NM_020919.4(ALS2):c.*942A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GLikely benign
Select item 333576	NM_020919.4(ALS2):c.*912A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333577	NM_020919.4(ALS2):c.*893C>T	ALS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 899076	NM_020919.4(ALS2):c.*843G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GBenign
Select item 899077	NM_020919.4(ALS2):c.*764A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 899078	NM_020919.4(ALS2):c.*586G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 894945	NM_020919.4(ALS2):c.*584G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 894946	NM_020919.4(ALS2):c.*504G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333578	NM_020919.4(ALS2):c.*447G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GBenign
Select item 894947	NM_020919.4(ALS2):c.*426T>A	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333579	NM_020919.4(ALS2):c.*379T>A	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GLikely benign
Select item 896383	NM_020919.4(ALS2):c.*302A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333580	NM_020919.4(ALS2):c.*163A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +2 more	GLikely benign
Select item 333581	NM_020919.4(ALS2):c.*105A>C	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GBenign/Likely benign
Select item 333582	NM_020919.4(ALS2):c.*15T>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 446823	NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr)	ALS2 (K1655T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 333583	NM_020919.4(ALS2):c.4958G>A (p.Arg1653His)	ALS2 (R1653H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +3 more	GUncertain significance
Select item 898013	NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys)	ALS2 (R1653C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2256441	NM_020919.4(ALS2):c.4946A>C (p.Tyr1649Ser)	ALS2 (Y1649S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1563199	NM_020919.4(ALS2):c.4938A>G (p.Ala1646=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2192831	NM_020919.4(ALS2):c.4936-1G>C	ALS2	Single nucleotide variant (splice acceptor variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 1178828	NM_020919.4(ALS2):c.4936-120G>T	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292878	NM_020919.4(ALS2):c.4936-129A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230069	NM_020919.4(ALS2):c.4936-152G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194515	NM_020919.4(ALS2):c.4936-233G>A	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260708	NM_020919.4(ALS2):c.4935+281T>C	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211994	NM_020919.4(ALS2):c.4935+226C>T	ALS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532248	NM_020919.4(ALS2):c.4935+10G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 747018	NM_020919.4(ALS2):c.4914T>G (p.Gly1638=)	ALS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351775	NM_020919.4(ALS2):c.4910A>G (p.Gln1637Arg)	ALS2 (Q1637R)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 1047662	NM_020919.4(ALS2):c.4909C>T (p.Gln1637Ter)	ALS2 (Q1637*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 3114176	NM_020919.4(ALS2):c.4906G>A (p.Glu1636Lys)	ALS2 (E1636K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2911605	NM_020919.4(ALS2):c.4899G>A (p.Gln1633=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 208757	NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter)	ALS2 (Q1633*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3354489	NM_020919.4(ALS2):c.4886A>G (p.Asp1629Gly)	ALS2 (D1628G +1 more)	Single nucleotide variant (missense variant)	ALS2-related disorder	GUncertain significance
Select item 1545553	NM_020919.4(ALS2):c.4881A>G (p.Leu1627=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 1493773	NM_020919.4(ALS2):c.4878T>A (p.Asp1626Glu)	ALS2 (D1626E)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 813696	NM_020919.4(ALS2):c.4871T>C (p.Ile1624Thr)	ALS2 (I1624T)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2771134	NM_020919.4(ALS2):c.4863A>G (p.Val1621=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 1051215	NM_020919.4(ALS2):c.4861G>A (p.Val1621Ile)	ALS2 (V1621I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 571279	NM_020919.4(ALS2):c.4858G>A (p.Glu1620Lys)	ALS2 (E1620K)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 700388	NM_020919.4(ALS2):c.4854C>T (p.Gly1618=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2744988	NM_020919.4(ALS2):c.4839-4G>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2741710	NM_020919.4(ALS2):c.4839-11C>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 1628661	NM_020919.4(ALS2):c.4838+19del	ALS2	Deletion (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 1649187	NM_020919.4(ALS2):c.4838+13T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2202462	NM_020919.4(ALS2):c.4838+10T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2862603	NM_020919.4(ALS2):c.4838+1G>A	ALS2	Single nucleotide variant (splice donor variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 947373	NM_020919.4(ALS2):c.4838+1del	ALS2	Deletion (splice donor variant)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 858805	NM_020919.4(ALS2):c.4837A>T (p.Arg1613Trp)	ALS2 (R1613W)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 1956841	NM_020919.4(ALS2):c.4832G>C (p.Arg1611Pro)	ALS2 (R1610P +1 more)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 989001	NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln)	ALS2 (R1611Q)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GConflicting classifications of pathogenicity
Select item 1344407	NM_020919.4(ALS2):c.4831C>T (p.Arg1611Trp)	ALS2 (R1611W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344403	NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe)	ALS2 (Y1607F)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 804521	NM_020919.4(ALS2):c.4818A>G (p.Leu1606=)	ALS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178530	NM_020919.4(ALS2):c.4817T>C (p.Leu1606Ser)	ALS2 (L1606S +1 more)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 873269	NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu)	ALS2 (P1603L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile	GLikely pathogenic
Select item 759025	NM_020919.4(ALS2):c.4773C>T (p.His1591=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 1149376	NM_020919.4(ALS2):c.4764G>C (p.Ala1588=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 241313	NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign/Likely benign
Select item 849081	NM_020919.4(ALS2):c.4763C>T (p.Ala1588Val)	ALS2 (A1588V)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 1963220	NM_020919.4(ALS2):c.4761G>A (p.Leu1587=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 973527	NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs)	ALS2 (S1585fs)	Microsatellite (frameshift variant)	Amyotrophic lateral sclerosis type 2, juvenile	GLikely pathogenic
Select item 2178656	NM_020919.4(ALS2):c.4751A>T (p.Gln1584Leu)	ALS2 (Q1584L +1 more)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 856694	NM_020919.4(ALS2):c.4733C>T (p.Thr1578Ile)	ALS2 (T1578I)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 1558572	NM_020919.4(ALS2):c.4725C>T (p.Ile1575=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 4412	NM_020919.4(ALS2):c.4721del (p.Val1574fs)	ALS2 (V1574fs)	Deletion (frameshift variant)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 2110930	NM_020919.4(ALS2):c.4708G>C (p.Asp1570His)	ALS2 (D1570H +1 more)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 1344392	NM_020919.4(ALS2):c.4692A>G (p.Thr1564=)	ALS2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2707381	NM_020919.4(ALS2):c.4689-7G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 1626004	NM_020919.4(ALS2):c.4689-10T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 1227486	NM_020919.4(ALS2):c.4688+208G>T	ALS2	Single nucleotide variant (intron variant)	not provided	GBenign

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