ClinVar for Gene (Select 2619) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3098608	NM_002048.3(GAS1):c.467G>A (p.Gly156Asp)	GAS1 (G156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098607	NM_002048.3(GAS1):c.431A>G (p.Glu144Gly)	GAS1 (E144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098606	NM_002048.3(GAS1):c.35C>T (p.Ala12Val)	GAS1 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098605	NM_002048.3(GAS1):c.101C>T (p.Ala34Val)	GAS1, LOC130001973 (A34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3059433	NM_002048.3(GAS1):c.180G>A (p.Glu60=)	GAS1	Single nucleotide variant (synonymous variant)	GAS1-related disorder	GLikely benign
Select item 3054316	NM_002048.3(GAS1):c.471C>G (p.Gly157=)	GAS1	Single nucleotide variant (synonymous variant)	GAS1-related disorder	GLikely benign
Select item 3032143	NM_002048.3(GAS1):c.273T>G (p.Ala91=)	GAS1, LOC130001972	Single nucleotide variant (synonymous variant)	GAS1-related disorder	GLikely benign
Select item 2996688	NM_002048.3(GAS1):c.226C>G (p.Leu76Val)	GAS1, LOC130001972 (L76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986190	NM_002048.3(GAS1):c.932A>G (p.Tyr311Cys)	GAS1 (Y311C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974153	NM_002048.3(GAS1):c.865G>C (p.Gly289Arg)	GAS1 (G289R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959558	NM_002048.3(GAS1):c.204C>T (p.Tyr68=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898305	NM_002048.3(GAS1):c.756C>G (p.Pro252=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895570	NM_002048.3(GAS1):c.894C>T (p.Ser298=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891701	NM_002048.3(GAS1):c.96C>G (p.Gly32=)	GAS1, LOC130001973	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888980	NM_002048.3(GAS1):c.528C>T (p.Asp176=)	GAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2882353	NM_002048.3(GAS1):c.842A>G (p.Glu281Gly)	GAS1 (E281G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772823	NM_002048.3(GAS1):c.271_273dup (p.Ala91_Phe92insAla)	GAS1, LOC130001972	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2738413	NM_002048.3(GAS1):c.396G>T (p.Gln132His)	GAS1 (Q132H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723598	NM_002048.3(GAS1):c.738C>T (p.Ala246=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713971	NM_002048.3(GAS1):c.452GCG[5] (p.Gly154_Ala155insGly)	GAS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2659289	NM_002048.3(GAS1):c.915C>T (p.Gly305=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630582	NM_002048.3(GAS1):c.643A>C (p.Lys215Gln)	GAS1 (K215Q)	Single nucleotide variant (missense variant)	GAS1-related disorder	GUncertain significance
Select item 2623704	NM_002048.3(GAS1):c.176C>A (p.Pro59Gln)	GAS1 (P59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620584	NM_002048.3(GAS1):c.198C>G (p.Asn66Lys)	GAS1 (N66K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539190	NM_002048.3(GAS1):c.765C>A (p.Ser255Arg)	GAS1 (S255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477412	NM_002048.3(GAS1):c.1003T>A (p.Ser335Thr)	GAS1 (S335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329549	NM_002048.3(GAS1):c.811G>A (p.Asp271Asn)	GAS1 (D271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298337	NM_002048.3(GAS1):c.25G>A (p.Gly9Ser)	GAS1 (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297382	NM_002048.3(GAS1):c.17T>C (p.Leu6Pro)	GAS1 (L6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296460	NM_002048.3(GAS1):c.121G>T (p.Ala41Ser)	GAS1, LOC130001973 (A41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272420	NM_002048.3(GAS1):c.469G>A (p.Gly157Ser)	GAS1 (G157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263312	NM_002048.3(GAS1):c.790T>C (p.Tyr264His)	GAS1 (Y264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225625	NM_002048.3(GAS1):c.107G>C (p.Arg36Pro)	GAS1, LOC130001973 (R36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2053440	NM_002048.3(GAS1):c.501C>G (p.Thr167=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039423	NM_002048.3(GAS1):c.221C>G (p.Pro74Arg)	GAS1, LOC130001972 (P74R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028666	NM_002048.3(GAS1):c.598A>G (p.Thr200Ala)	GAS1 (T200A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013748	NM_002048.3(GAS1):c.392C>T (p.Ala131Val)	GAS1 (A131V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993353	NM_002048.3(GAS1):c.782T>C (p.Leu261Pro)	GAS1 (L261P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971939	NM_002048.3(GAS1):c.1032C>G (p.Leu344=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948507	NM_002048.3(GAS1):c.955GGC[5] (p.Gly322_Arg323insGly)	GAS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1942804	NM_002048.3(GAS1):c.604G>C (p.Glu202Gln)	GAS1 (E202Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925724	NM_002048.3(GAS1):c.547C>G (p.Leu183Val)	GAS1 (L183V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922040	NM_002048.3(GAS1):c.1031T>A (p.Leu344His)	GAS1 (L344H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908820	NM_002048.3(GAS1):c.807C>T (p.Tyr269=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809190	GRCh37/hg19 9q21.33(chr9:89359204-89868057)x1	GAS1, LINC02872	Copy number loss	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1657516	NM_002048.3(GAS1):c.118C>T (p.Leu40=)	GAS1, LOC130001973	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646771	NM_002048.3(GAS1):c.70C>T (p.Leu24=)	GAS1, LOC130001973	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613183	NM_002048.3(GAS1):c.952A>G (p.Ser318Gly)	GAS1 (S318G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1609959	NM_002048.3(GAS1):c.993C>T (p.Thr331=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603769	NM_002048.3(GAS1):c.450G>T (p.Thr150=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599617	NM_002048.3(GAS1):c.178G>C (p.Glu60Gln)	GAS1 (E60Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1590544	NM_002048.3(GAS1):c.927G>T (p.Leu309=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584841	NM_002048.3(GAS1):c.928C>T (p.Pro310Ser)	GAS1 (P310S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1561993	NM_002048.3(GAS1):c.102G>T (p.Ala34=)	GAS1, LOC130001973	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558584	NM_002048.3(GAS1):c.33G>A (p.Glu11=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537329	NM_002048.3(GAS1):c.958G>T (p.Gly320Cys)	GAS1 (G320C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1498169	NM_002048.3(GAS1):c.424G>A (p.Ala142Thr)	GAS1 (A142T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482552	NM_002048.3(GAS1):c.133C>G (p.Arg45Gly)	GAS1, LOC130001973 (R45G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477406	NM_002048.3(GAS1):c.487G>A (p.Val163Ile)	GAS1 (V163I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467320	NM_002048.3(GAS1):c.976C>T (p.Pro326Ser)	GAS1 (P326S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430876	NM_002048.3(GAS1):c.178G>A (p.Glu60Lys)	GAS1 (E60K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417985	NM_002048.3(GAS1):c.464C>G (p.Ala155Gly)	GAS1 (A155G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318144	NM_002048.3(GAS1):c.-480A>G	GAS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1287170	NM_002048.3(GAS1):c.-467G>T	GAS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1285886	NM_002048.3(GAS1):c.-493G>T	GAS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1276302	NM_002048.3(GAS1):c.264C>T (p.Ala88=)	GAS1, LOC130001972	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1275472	NM_002048.3(GAS1):c.-225A>G	GAS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1270943	NM_002048.3(GAS1):c.*208C>T	GAS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1236851	NM_002048.3(GAS1):c.*214G>C	GAS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1223038	NM_002048.3(GAS1):c.-660G>A	GAS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1049545	NM_002048.3(GAS1):c.-67C>T	GAS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 781669	NM_002048.3(GAS1):c.741G>A (p.Glu247=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 765041	NM_002048.3(GAS1):c.189C>T (p.Tyr63=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763281	NM_002048.3(GAS1):c.652C>T (p.Leu218=)	GAS1	Single nucleotide variant (synonymous variant)	GAS1-related disorder +1 more	GLikely benign
Select item 761560	NM_002048.3(GAS1):c.993C>G (p.Thr331=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756612	NM_002048.3(GAS1):c.177G>A (p.Pro59=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744157	NM_002048.3(GAS1):c.942G>T (p.Gly314=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741567	NM_002048.3(GAS1):c.312C>G (p.Arg104=)	GAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 563626	GRCh37/hg19 9q21.33(chr9:89520333-89854041)x3	GAS1, LINC02872	Copy number gain	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +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 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	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 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2