ClinVar for Gene (Select 197135) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3053240	NM_001387263.1(PATL2):c.255C>T (p.Ala85=)	PATL2	Single nucleotide variant (synonymous variant +1 more)	PATL2-related condition	GLikely benign
Select item 3049657	NM_001387263.1(PATL2):c.1146C>G (p.Pro382=)	PATL2	Single nucleotide variant (synonymous variant)	PATL2-related condition	GLikely benign
Select item 3048603	NM_001387263.1(PATL2):c.1348G>A (p.Val450Met)	PATL2 (V261M +2 more)	Single nucleotide variant (missense variant)	PATL2-related condition	GLikely benign
Select item 3038941	NM_001387263.1(PATL2):c.552C>T (p.Asp184=)	PATL2	Single nucleotide variant (synonymous variant +2 more)	PATL2-related condition	GLikely benign
Select item 3038321	NM_001387263.1(PATL2):c.693C>T (p.Asp231=)	PATL2	Single nucleotide variant (synonymous variant)	PATL2-related condition	GLikely benign
Select item 3037265	NM_001387263.1(PATL2):c.59T>C (p.Leu20Pro)	PATL2 (L20P)	Single nucleotide variant (missense variant +1 more)	PATL2-related condition	GBenign
Select item 3035655	NM_001387263.1(PATL2):c.429G>T (p.Ser143=)	PATL2	Single nucleotide variant (synonymous variant +1 more)	PATL2-related condition	GLikely benign
Select item 3026090	NM_001387263.1(PATL2):c.1205G>A (p.Arg402Gln)	PATL2 (R213Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025931	NM_001387263.1(PATL2):c.1453C>T (p.His485Tyr)	PATL2 (H296Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025136	NM_001387263.1(PATL2):c.102_113del (p.Glu38_Glu41del)	PATL2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2616861	NM_001387263.1(PATL2):c.1099G>C (p.Val367Leu)	PATL2 (V336L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614690	NM_001387263.1(PATL2):c.1340C>T (p.Pro447Leu)	PATL2 (P258L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596953	NM_001387263.1(PATL2):c.998A>G (p.Glu333Gly)	PATL2 (E302G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572170	NC_000015.10:g.44330225_44821972dup	B2M, CTDSPL2 +21 more	Duplication	See cases	GUncertain significance
Select item 2551804	NM_001387263.1(PATL2):c.1393C>A (p.Leu465Met)	PATL2 (L434M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535355	NM_001387263.1(PATL2):c.1414G>A (p.Val472Ile)	PATL2 (V283I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527585	NM_001387263.1(PATL2):c.983C>T (p.Pro328Leu)	PATL2 (P297L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511484	NM_001387263.1(PATL2):c.1310C>T (p.Thr437Met)	PATL2 (T248M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2499466	NM_001387263.1(PATL2):c.890del (p.Ala297fs)	PATL2 (A108fs +2 more)	Deletion (frameshift variant)	Oocyte maturation defect 4	GPathogenic
Select item 2498608	NM_001387263.1(PATL2):c.1222C>G (p.Gln408Glu)	PATL2 (Q219E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467507	NM_001387263.1(PATL2):c.818C>T (p.Ser273Leu)	PATL2 (S84L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383495	NM_001387263.1(PATL2):c.793G>A (p.Gly265Ser)	PATL2 (G234S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374562	NM_001387263.1(PATL2):c.1418C>T (p.Ser473Leu)	PATL2 (S473L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349478	NM_001387263.1(PATL2):c.710G>A (p.Arg237Gln)	PATL2 (R237Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2318850	NM_001387263.1(PATL2):c.1411C>A (p.Leu471Met)	PATL2 (L471M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314573	NM_001387263.1(PATL2):c.574A>G (p.Arg192Gly)	PATL2 (R192G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300817	NM_001387263.1(PATL2):c.1595A>C (p.Gln532Pro)	PATL2 (Q343P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269926	NM_001387263.1(PATL2):c.1276C>T (p.Leu426Phe)	PATL2 (L426F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2267657	NM_001387263.1(PATL2):c.715A>C (p.Asn239His)	PATL2 (N208H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245743	NM_001387263.1(PATL2):c.811G>A (p.Ala271Thr)	PATL2 (A240T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675574	NM_001387263.1(PATL2):c.836G>A (p.Arg279His)	PATL2 (R248H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1459028	NC_000015.9:g.(?_44864989)_(44988554_?)del	PATL2, SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 1326987	NM_001387263.1(PATL2):c.262A>G (p.Met88Val)	PATL2 (M88V)	Single nucleotide variant (missense variant +1 more)	Oocyte maturation defect 4	GBenign
Select item 1324847	NM_001387263.1(PATL2):c.446+1G>C	PATL2	Single nucleotide variant (splice donor variant)	Oocyte maturation defect 4	GLikely pathogenic
Select item 1323414	NM_001387263.1(PATL2):c.1225-2A>G	PATL2	Single nucleotide variant (splice acceptor variant)	Oocyte maturation defect 4	GPathogenic
Select item 1298616	NM_001387263.1(PATL2):c.*141T>A	PATL2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1211704	NM_001387263.1(PATL2):c.1225-3C>A	PATL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1007236	NC_000015.9:g.(?_44855319)_(45898712_?)dup	B2M, BLOC1S6 +15 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 981145	NM_001387263.1(PATL2):c.814G>A (p.Val272Met)	PATL2 (V272M +2 more)	Single nucleotide variant (missense variant)	PATL2-related condition	GBenign
Select item 833124	NC_000015.10:g.(?_44563111)_(44860174_?)dup	B2M, PATL2 +2 more	Duplication	Hereditary spastic paraplegia 11	GUncertain significance
Select item 774222	NM_001387263.1(PATL2):c.1551A>G (p.Leu517=)	PATL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756315	NM_001387263.1(PATL2):c.1530C>G (p.Pro510=)	PATL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 686470	GRCh37/hg19 15q21.1(chr15:44915910-44962751)x3	PATL2, SPG11	Copy number gain	not provided	GUncertain significance
Select item 564198	GRCh37/hg19 15q21.1(chr15:44890130-45381998)x3	TERB2, SPG11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 549492	NM_001387263.1(PATL2):c.566T>G (p.Leu189Arg)	PATL2 (L189R)	Single nucleotide variant (missense variant +2 more)	Oocyte maturation defect 4	GLikely pathogenic
Select item 549488	NM_001387263.1(PATL2):c.649T>A (p.Tyr217Asn)	PATL2 (Y217N +1 more)	Single nucleotide variant (missense variant +1 more)	Oocyte maturation defect 4	GLikely pathogenic
Select item 444052	NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln)	PATL2 (R280Q +2 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 4	GUncertain significance
Select item 444051	NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr)	PATL2 (I318T +2 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 4	GUncertain significance
Select item 444050	NM_001387263.1(PATL2):c.1224+2T>C	PATL2	Single nucleotide variant (splice donor variant)	Oocyte maturation defect 4	GPathogenic
Select item 444049	NM_001387263.1(PATL2):c.223-14_223-2del	PATL2	Deletion (splice acceptor variant +1 more)	Oocyte maturation defect 4	GPathogenic
Select item 444048	NM_001387263.1(PATL2):c.558T>A (p.Tyr186Ter)	PATL2 (Y186*)	Single nucleotide variant (nonsense +2 more)	Oocyte maturation defect 4	GPathogenic
Select item 444047	NM_001387263.1(PATL2):c.784C>T (p.Arg262Ter)	PATL2 (R262* +2 more)	Single nucleotide variant (nonsense)	Oocyte maturation defect 4	GLikely pathogenic
Select item 444046	NM_001387263.1(PATL2):c.1108G>A (p.Gly370Arg)	PATL2 (G370R +2 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 4	GUncertain significance
Select item 444045	NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter)	LOC130056977, PATL2 (R160*)	Single nucleotide variant (nonsense +1 more)	Oocyte maturation defect 2 +1 more	GLikely pathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AP4E1 +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 66