ClinVar for Gene (Select 9487) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306497	NM_004278.4(PIGL):c.691C>T (p.Leu231Phe)	PIGL (L231F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306496	NM_004278.4(PIGL):c.664G>T (p.Ala222Ser)	PIGL (S211I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306495	NM_004278.4(PIGL):c.29C>T (p.Ala10Val)	PIGL (A10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243157	NC_000017.10:g.(?_16203182)_(16229212_?)dup	PIGL	Duplication	not provided	GUncertain significance
Select item 3212804	NM_004278.4(PIGL):c.725G>A (p.Arg242Gln)	PIGL (R242Q)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212802	NM_004278.4(PIGL):c.149C>T (p.Pro50Leu)	PIGL (P50L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063519	GRCh37/hg19 17p11.2(chr17:16096240-16317075)x3	CENPV, NCOR1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063493	GRCh37/hg19 17p12-11.2(chr17:15872060-16909718)x3	ADORA2B, CCDC144A +11 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3020430	NM_004278.4(PIGL):c.574A>C (p.Ile192Leu)	PIGL (I192L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018446	NM_004278.4(PIGL):c.741C>T (p.Asn247=)	PIGL (L237F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3017459	NM_004278.4(PIGL):c.495-16C>T	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998838	NM_004278.4(PIGL):c.324T>C (p.Ile108=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912671	NM_004278.4(PIGL):c.235+1_235+10dup	PIGL	Duplication (splice donor variant)	not provided	GLikely benign
Select item 2896701	NM_004278.4(PIGL):c.19C>T (p.Leu7=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895356	NM_004278.4(PIGL):c.593C>T (p.Pro198Leu)	PIGL (P198L)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 2757357	NM_004278.4(PIGL):c.79C>A (p.Arg27=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701782	NM_004278.4(PIGL):c.336-17G>A	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684837	GRCh37/hg19 17p11.2(chr17:16193908-16490573)x3	CENPV, LRRC75A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684836	GRCh37/hg19 17p12-11.2(chr17:15633208-16567624)x3	ADORA2B, CENPV +10 more	Copy number gain	not provided	GUncertain significance
Select item 2544320	NM_004278.4(PIGL):c.308T>C (p.Leu103Pro)	PIGL (L103P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2505636	NM_004278.4(PIGL):c.701G>A (p.Arg234His)	PIGL (R234H)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely pathogenic
Select item 2415313	NM_004278.4(PIGL):c.336-14C>T	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2390276	NM_004278.4(PIGL):c.611C>A (p.Thr204Lys)	PIGL (T204K +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381410	NM_004278.4(PIGL):c.596T>C (p.Leu199Ser)	PIGL (L199S)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250551	NM_004278.4(PIGL):c.35C>A (p.Ala12Glu)	PIGL (A12E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194934	NM_004278.4(PIGL):c.527-17G>C	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180248	NM_004278.4(PIGL):c.21G>A (p.Leu7=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173575	NM_004278.4(PIGL):c.336-3T>C	PIGL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2169034	NM_004278.4(PIGL):c.734G>A (p.Arg245Lys)	PIGL (R245K)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2162745	NM_004278.4(PIGL):c.335+9T>C	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2160620	NM_004278.4(PIGL):c.628G>A (p.Val210Met)	PIGL (V210M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156875	NM_004278.4(PIGL):c.632T>C (p.Leu211Pro)	PIGL (L211P)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2110656	NM_004278.4(PIGL):c.161C>T (p.Ala54Val)	PIGL (A54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093342	NC_000017.11:g.16216575_16217378del	LOC130060313, PIGL	Deletion	not provided	GUncertain significance
Select item 2088141	NM_004278.4(PIGL):c.25G>T (p.Val9Leu)	PIGL (V9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085708	NM_004278.4(PIGL):c.132G>C (p.Leu44=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074188	NM_004278.4(PIGL):c.636C>T (p.Asn212=)	PIGL (Q202*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2072714	NM_004278.4(PIGL):c.494+13G>A	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072616	NM_004278.4(PIGL):c.706C>T (p.Leu236Phe)	PIGL (L236F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064660	NM_004278.4(PIGL):c.271del (p.Glu91fs)	PIGL (E91fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2059082	NM_004278.4(PIGL):c.543G>A (p.Thr181=)	PIGL (A171T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2057710	NM_004278.4(PIGL):c.611C>T (p.Thr204Met)	PIGL (T204M)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2040979	NM_004278.4(PIGL):c.527-5T>C	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015825	NM_004278.4(PIGL):c.527-9T>C	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977878	NM_004278.4(PIGL):c.687G>A (p.Gln229=)	PIGL (A219T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1931241	NM_004278.4(PIGL):c.567C>A (p.Arg189=)	PIGL (Q179K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1909938	NM_004278.4(PIGL):c.607C>G (p.His203Asp)	PIGL (S192* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1809849	NM_004278.4(PIGL):c.89G>A (p.Ser30Asn)	PIGL (S30N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1809485	GRCh37/hg19 17p12-11.2(chr17:15754174-16657319)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808102	GRCh37/hg19 17p12-11.2(chr17:15722840-16653256)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1707129	NM_004278.4(PIGL):c.495-65C>G	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1687204	NM_004278.4(PIGL):c.262C>G (p.Arg88Gly)	PIGL (R88G)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 1678186	NM_004278.4(PIGL):c.24T>G (p.Cys8Trp)	PIGL (C8W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1657065	NM_004278.4(PIGL):c.426+8G>T	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636735	NM_004278.4(PIGL):c.702C>T (p.Arg234=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526252	NM_004278.4(PIGL):c.154_161del (p.Asp52fs)	PIGL (D52fs)	Deletion (frameshift variant)	CHIME syndrome	GLikely pathogenic
Select item 1484456	NM_004278.4(PIGL):c.740A>G (p.Asn247Ser)	PIGL (N247S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484361	NC_000017.10:g.(?_15903163)_(16229212_?)dup	NCOR1, PIGL +1 more	Duplication	not provided	GUncertain significance
Select item 1474420	NM_004278.4(PIGL):c.605T>C (p.Leu202Pro)	PIGL (L202P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1461871	NM_004278.4(PIGL):c.17T>G (p.Leu6Arg)	PIGL (L6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430951	NM_004278.4(PIGL):c.218T>C (p.Leu73Pro)	PIGL (L73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425840	NM_004278.4(PIGL):c.163A>G (p.Met55Val)	PIGL (M55V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1411114	NC_000017.10:g.(?_16229094)_(16229212_?)dup	PIGL	Duplication	not provided	GUncertain significance
Select item 1399871	NM_004278.4(PIGL):c.6A>C (p.Glu2Asp)	LOC130060313, PIGL (E2D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341513	NM_004278.4(PIGL):c.438C>A (p.Phe146Leu)	PIGL (F146L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1338851	NM_004278.4(PIGL):c.660+1G>T	PIGL	Single nucleotide variant (splice donor variant)	CHIME syndrome	GLikely pathogenic
Select item 1324907	NM_004278.4(PIGL):c.494+1G>A	PIGL	Single nucleotide variant (splice donor variant)	CHIME syndrome	GLikely pathogenic
Select item 1299303	NM_004278.4(PIGL):c.154G>A (p.Asp52Asn)	PIGL (D52N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1294986	NM_004278.4(PIGL):c.236-29del	PIGL	Deletion (intron variant)	not provided	GBenign
Select item 1288509	NM_004278.4(PIGL):c.660+53dup	PIGL	Duplication (intron variant)	not provided	GBenign
Select item 1277657	NM_004278.4(PIGL):c.427-256A>C	PIGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262840	NM_004278.4(PIGL):c.494+60G>C	PIGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261588	NM_004278.4(PIGL):c.495-203C>T	PIGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229268	NM_004278.4(PIGL):c.660+68C>A	PIGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222125	NM_004278.4(PIGL):c.660+97T>C	PIGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1058607	NM_004278.4(PIGL):c.712A>G (p.Ile238Val)	PIGL (I238V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1039621	NM_004278.4(PIGL):c.704G>A (p.Arg235His)	PIGL (R235H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1031398	NM_004278.4(PIGL):c.296T>G (p.Leu99Trp)	PIGL (L99W)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 980122	GRCh37/hg19 17p12-11.2(chr17:15688146-16769801)x3	CENPV, LRRC75A +10 more	Copy number gain	not provided	GUncertain significance
Select item 980121	GRCh37/hg19 17p12-11.2(chr17:15688146-16756345)x1	UBB, TRPV2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 980120	GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1	ADORA2B, ALKBH5 +37 more	Copy number loss	not provided	GPathogenic
Select item 971208	NM_004278.4(PIGL):c.473T>C (p.Ile158Thr)	PIGL (I158T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933635	NM_004278.4(PIGL):c.694T>C (p.Trp232Arg)	PIGL (W232R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931657	NM_004278.4(PIGL):c.725G>C (p.Arg242Pro)	PIGL (R242P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891824	NM_004278.4(PIGL):c.398A>G (p.Gln133Arg)	PIGL (Q133R)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 891823	NM_004278.4(PIGL):c.130C>T (p.Leu44=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 890071	NM_004278.4(PIGL):c.*364G>A	PIGL	Single nucleotide variant (3 prime UTR variant)	CHIME syndrome	GBenign
Select item 890070	NM_004278.4(PIGL):c.*318C>A	PIGL	Single nucleotide variant (3 prime UTR variant)	CHIME syndrome	GUncertain significance
Select item 890069	NM_004278.4(PIGL):c.*182A>G	PIGL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 889381	NM_004278.4(PIGL):c.724C>T (p.Arg242Trp)	PIGL (R242W)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 889380	NM_004278.4(PIGL):c.535G>T (p.Val179Leu)	PIGL (V179L)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 860229	NM_004278.4(PIGL):c.385A>G (p.Arg129Gly)	PIGL (R129G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 832395	NC_000017.11:g.(?_16217207)_(16972095_?)dup	CCDC144A, CENPV +7 more	Duplication	not provided	GUncertain significance
Select item 815910	GRCh37/hg19 17p12-11.2(chr17:15730101-16591260)x3	ZNF287, CENPV +9 more	Copy number gain	not provided	GUncertain significance
Select item 815909	GRCh37/hg19 17p12-11.2(chr17:15722839-16763698)x3	ZSWIM7, ADORA2B +10 more	Copy number gain	not provided	GUncertain significance

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