29968[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 151910	GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1	CEP78, GNA14 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 914574	NM_058179.4(PSAT1):c.-26T>G	PSAT1	Single nucleotide variant (5 prime UTR variant)	PSAT deficiency	GUncertain significance
Select item 367450	NM_058179.4(PSAT1):c.-12G>C	PSAT1	Single nucleotide variant (5 prime UTR variant)	Neu-Laxova syndrome 2 +2 more	GBenign
Select item 976916	NM_058179.4(PSAT1):c.4G>A (p.Asp2Asn)	PSAT1 (D2N)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 912614	NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr)	PSAT1 (D2Y)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +1 more	GUncertain significance
Select item 976926	NM_058179.4(PSAT1):c.7G>T (p.Ala3Ser)	PSAT1 (A3S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976925	NM_058179.4(PSAT1):c.7G>A (p.Ala3Thr)	PSAT1 (A3T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1670491	NM_058179.4(PSAT1):c.9C>T (p.Ala3=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 912615	NM_058179.4(PSAT1):c.10C>G (p.Pro4Ala)	PSAT1 (P4A)	Single nucleotide variant (missense variant)	PSAT deficiency	GUncertain significance
Select item 1620049	NM_058179.4(PSAT1):c.33G>T (p.Gly11=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2114505	NM_058179.4(PSAT1):c.37G>A (p.Gly13Ser)	PSAT1 (G13S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 2140707	NM_058179.4(PSAT1):c.43_60+9del	PSAT1	Deletion (splice donor variant)	Neu-Laxova syndrome 2	GLikely pathogenic
Select item 1414482	NM_058179.4(PSAT1):c.43G>A (p.Ala15Thr)	PSAT1 (A15T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 367451	NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro)	PSAT1 (A15P)	Single nucleotide variant (missense variant)	PSAT deficiency +1 more	GUncertain significance
Select item 450380	NM_058179.4(PSAT1):c.44C>T (p.Ala15Val)	PSAT1 (A15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990642	NM_058179.4(PSAT1):c.49C>T (p.Leu17=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2792468	NM_058179.4(PSAT1):c.54G>T (p.Pro18=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 367452	NM_058179.4(PSAT1):c.54G>A (p.Pro18=)	PSAT1	Single nucleotide variant (synonymous variant)	PSAT deficiency +1 more	GConflicting classifications of pathogenicity
Select item 367453	NM_058179.4(PSAT1):c.55C>G (p.His19Asp)	PSAT1 (H19D)	Single nucleotide variant (missense variant)	PSAT deficiency +1 more	GUncertain significance
Select item 3339981	NM_058179.4(PSAT1):c.60+2T>C	PSAT1	Single nucleotide variant (splice donor variant)	PSAT1-related disorder	GLikely pathogenic
Select item 1552094	NM_058179.4(PSAT1):c.60+8C>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1643633	NM_058179.4(PSAT1):c.60+9C>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 2037094	NM_058179.4(PSAT1):c.60+10C>T	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1596708	NM_058179.4(PSAT1):c.60+20C>A	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1467408	NM_058179.4(PSAT1):c.60+20C>T	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1296838	NM_058179.4(PSAT1):c.60+211C>G	PSAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233296	NM_058179.4(PSAT1):c.61-126G>A	PSAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251300	NM_058179.4(PSAT1):c.61-115A>T	PSAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1669519	NM_058179.4(PSAT1):c.61-17C>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 632049	NM_058179.4(PSAT1):c.61-2A>G	PSAT1	Single nucleotide variant (splice acceptor variant)	PSAT deficiency	GUncertain significance
Select item 976928	NM_058179.4(PSAT1):c.62T>G (p.Val21Gly)	PSAT1 (V21G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976927	NM_058179.4(PSAT1):c.62T>A (p.Val21Glu)	PSAT1 (V21E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976970	NM_058179.4(PSAT1):c.65T>G (p.Leu22Trp)	PSAT1 (L22W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976971	NM_058179.4(PSAT1):c.73A>G (p.Ile25Val)	PSAT1 (I25V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2986158	NM_058179.4(PSAT1):c.76C>T (p.Gln26Ter)	PSAT1 (Q26*)	Single nucleotide variant (nonsense)	Neu-Laxova syndrome 2	GPathogenic
Select item 1364212	NM_058179.4(PSAT1):c.80A>G (p.Lys27Arg)	PSAT1 (K27R)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 2061743	NM_058179.4(PSAT1):c.82_83del (p.Glu28fs)	PSAT1 (E28fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 731921	NM_058179.4(PSAT1):c.90A>G (p.Leu30=)	PSAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 976972	NM_058179.4(PSAT1):c.91G>A (p.Asp31Asn)	PSAT1 (D31N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1978478	NM_058179.4(PSAT1):c.92A>G (p.Asp31Gly)	PSAT1 (D31G)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976973	NM_058179.4(PSAT1):c.94T>C (p.Tyr32His)	PSAT1 (Y32H)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976974	NM_058179.4(PSAT1):c.97A>G (p.Lys33Glu)	PSAT1 (K33E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976975	NM_058179.4(PSAT1):c.98A>G (p.Lys33Arg)	PSAT1 (K33R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2993383	NM_058179.4(PSAT1):c.99A>G (p.Lys33=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 912616	NM_058179.4(PSAT1):c.104T>A (p.Val35Asp)	PSAT1 (V35D)	Single nucleotide variant (missense variant)	PSAT deficiency	GUncertain significance
Select item 976976	NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg)	PSAT1 (G36R)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1081	NM_058179.4(PSAT1):c.107del (p.Gly36fs)	PSAT1 (G36fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 913714	NM_058179.4(PSAT1):c.107G>A (p.Gly36Asp)	PSAT1 (G36D)	Single nucleotide variant (missense variant)	PSAT deficiency	GUncertain significance
Select item 2916545	NM_058179.4(PSAT1):c.108C>T (p.Gly36=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 977018	NM_058179.4(PSAT1):c.109A>G (p.Ile37Val)	PSAT1 (I37V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1492981	NM_058179.4(PSAT1):c.118C>G (p.Leu40Val)	PSAT1 (L40V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 802488	NM_058179.4(PSAT1):c.121+5G>A	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1557436	NM_058179.4(PSAT1):c.121+16G>A	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1286224	NM_058179.4(PSAT1):c.122-255G>A	PSAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1648068	NM_058179.4(PSAT1):c.122-17T>C	PSAT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2769934	NM_058179.4(PSAT1):c.122-15T>C	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1988334	NM_058179.4(PSAT1):c.122-9_122-5del	PSAT1	Microsatellite (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1545794	NM_058179.4(PSAT1):c.122-9C>G	PSAT1	Single nucleotide variant (intron variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 1502312	NM_058179.4(PSAT1):c.122-1G>C	PSAT1	Single nucleotide variant (splice acceptor variant)	Neu-Laxova syndrome 2	GLikely pathogenic
Select item 977019	NM_058179.4(PSAT1):c.124A>G (p.Met42Val)	PSAT1 (M42V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977020	NM_058179.4(PSAT1):c.127A>C (p.Ser43Arg)	PSAT1 (S43R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977022	NM_058179.4(PSAT1):c.129T>G (p.Ser43Arg)	PSAT1 (S43R)	Single nucleotide variant (missense variant)	PSAT deficiency	GPathogenic
Select item 977021	NM_058179.4(PSAT1):c.129T>A (p.Ser43Arg)	PSAT1 (S43R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977024	NM_058179.4(PSAT1):c.132C>G (p.His44Gln)	PSAT1 (H44Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 977023	NM_058179.4(PSAT1):c.132C>A (p.His44Gln)	PSAT1 (H44Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1917641	NM_058179.4(PSAT1):c.135G>A (p.Arg45=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 977025	NM_058179.4(PSAT1):c.135G>C (p.Arg45Ser)	PSAT1 (R45S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976917	NM_058179.4(PSAT1):c.135G>T (p.Arg45Ser)	PSAT1 (R45S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976918	NM_058179.4(PSAT1):c.136T>C (p.Ser46Pro)	PSAT1 (S46P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976919	NM_058179.4(PSAT1):c.142G>A (p.Asp48Asn)	PSAT1 (D48N)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 2335174	NM_058179.4(PSAT1):c.148G>T (p.Ala50Ser)	PSAT1 (A50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1951748	NM_058179.4(PSAT1):c.150C>T (p.Ala50=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 976920	NM_058179.4(PSAT1):c.151A>C (p.Lys51Gln)	PSAT1 (K51Q)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976922	NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn)	PSAT1 (K51N)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976921	NM_058179.4(PSAT1):c.153G>C (p.Lys51Asn)	PSAT1 (K51N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1345069	NM_058179.4(PSAT1):c.155T>C (p.Ile52Thr)	PSAT1 (I52T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976923	NM_058179.4(PSAT1):c.161A>T (p.Asn54Ile)	PSAT1 (N54I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1638534	NM_058179.4(PSAT1):c.162C>T (p.Asn54=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2	GLikely benign
Select item 976924	NM_058179.4(PSAT1):c.163A>G (p.Asn55Asp)	PSAT1 (N55D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1471371	NM_058179.4(PSAT1):c.164A>T (p.Asn55Ile)	PSAT1 (N55I)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976929	NM_058179.4(PSAT1):c.164A>G (p.Asn55Ser)	PSAT1 (N55S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 976930	NM_058179.4(PSAT1):c.166A>G (p.Thr56Ala)	PSAT1 (T56A)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976931	NM_058179.4(PSAT1):c.170A>G (p.Glu57Gly)	PSAT1 (E57G)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 976932	NM_058179.4(PSAT1):c.173A>G (p.Asn58Ser)	PSAT1 (N58S)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 1467455	NM_058179.4(PSAT1):c.175C>G (p.Leu59Val)	PSAT1 (L59V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance

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