PATL2[gene] and "single gene"[properties] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298616	NM_001387263.1(PATL2):c.*141T>A	PATL2	Single nucleotide variant (3 prime UTR variant)	not provided	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 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 3304454	NM_001387263.1(PATL2):c.1511C>T (p.Thr504Ile)	PATL2 (T473I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 3048603	NM_001387263.1(PATL2):c.1348G>A (p.Val450Met)	PATL2 (V261M +2 more)	Single nucleotide variant (missense variant)	PATL2-related disorder	GLikely benign
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 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 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 3208949	NM_001387263.1(PATL2):c.1274C>T (p.Thr425Ile)	PATL2 (T425I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208947	NM_001387263.1(PATL2):c.1240T>C (p.Phe414Leu)	PATL2 (F225L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1211704	NM_001387263.1(PATL2):c.1225-3C>A	PATL2	Single nucleotide variant (intron variant)	not provided	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 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 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 3208946	NM_001387263.1(PATL2):c.1174G>A (p.Ala392Thr)	PATL2 (A361T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049657	NM_001387263.1(PATL2):c.1146C>G (p.Pro382=)	PATL2	Single nucleotide variant (synonymous variant)	PATL2-related disorder	GLikely benign
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 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 3208945	NM_001387263.1(PATL2):c.1018G>A (p.Glu340Lys)	PATL2 (E151K +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 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 3304452	NM_001387263.1(PATL2):c.962G>T (p.Gly321Val)	PATL2 (G290V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2499466	NM_001387263.1(PATL2):c.890del (p.Ala297fs)	PATL2 (A108fs +2 more)	Deletion (frameshift variant)	Oocyte maturation defect 4	GPathogenic
Select item 3304451	NM_001387263.1(PATL2):c.866C>G (p.Thr289Ser)	PATL2 (T289S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1675574	NM_001387263.1(PATL2):c.836G>A (p.Arg279His)	PATL2 (R248H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 981145	NM_001387263.1(PATL2):c.814G>A (p.Val272Met)	PATL2 (V272M +2 more)	Single nucleotide variant (missense variant)	PATL2-related disorder	GBenign
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 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 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 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 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 3038321	NM_001387263.1(PATL2):c.693C>T (p.Asp231=)	PATL2	Single nucleotide variant (synonymous variant)	PATL2-related disorder	GLikely benign
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 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 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 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 3038941	NM_001387263.1(PATL2):c.552C>T (p.Asp184=)	PATL2	Single nucleotide variant (synonymous variant +2 more)	PATL2-related disorder	GLikely benign
Select item 3257188	NM_001387263.1(PATL2):c.516-2A>G	PATL2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
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 3035655	NM_001387263.1(PATL2):c.429G>T (p.Ser143=)	PATL2	Single nucleotide variant (synonymous variant +1 more)	PATL2-related disorder	GLikely benign
Select item 3208951	NM_001387263.1(PATL2):c.320C>G (p.Ser107Trp)	PATL2 (S107W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3053240	NM_001387263.1(PATL2):c.255C>T (p.Ala85=)	PATL2	Single nucleotide variant (synonymous variant +1 more)	PATL2-related disorder	GLikely benign
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 3208950	NM_001387263.1(PATL2):c.178G>A (p.Asp60Asn)	PATL2 (D60N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3208948	NM_001387263.1(PATL2):c.126C>G (p.Asp42Glu)	PATL2 (D42E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 3037265	NM_001387263.1(PATL2):c.59T>C (p.Leu20Pro)	PATL2 (L20P)	Single nucleotide variant (missense variant +1 more)	PATL2-related disorder	GBenign

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Items: 58