ClinVar for Gene (Select 56252) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027127	NM_019589.3(YLPM1):c.3680G>A (p.Trp1227Ter)	YLPM1 (W1227*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644372	NM_019589.3(YLPM1):c.4533G>A (p.Ser1511=)	YLPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644371	NM_019589.3(YLPM1):c.939G>A (p.Leu313=)	YLPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616512	NM_019589.3(YLPM1):c.1339C>A (p.Gln447Lys)	YLPM1 (Q447K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614895	NM_019589.3(YLPM1):c.1514A>G (p.Asn505Ser)	YLPM1 (N505S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603617	NM_019589.3(YLPM1):c.3340C>G (p.Pro1114Ala)	YLPM1 (P1114A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602119	NM_019589.3(YLPM1):c.4554G>A (p.Met1518Ile)	YLPM1 (M1518I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601207	NM_019589.3(YLPM1):c.3976C>T (p.Arg1326Trp)	YLPM1 (R1326W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591571	NM_019589.3(YLPM1):c.3094C>T (p.Arg1032Trp)	YLPM1 (R1032W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588875	NM_019589.3(YLPM1):c.1931C>T (p.Pro644Leu)	YLPM1 (P644L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560312	NM_019589.3(YLPM1):c.1544C>T (p.Ser515Leu)	YLPM1 (S515L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560020	NM_019589.3(YLPM1):c.53C>G (p.Pro18Arg)	YLPM1 (P18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555035	NM_019589.3(YLPM1):c.1690G>C (p.Val564Leu)	YLPM1 (V564L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552024	NM_019589.3(YLPM1):c.493A>C (p.Met165Leu)	YLPM1 (M165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551725	NM_019589.3(YLPM1):c.2645C>G (p.Ala882Gly)	YLPM1 (A882G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549837	NM_019589.3(YLPM1):c.3836A>G (p.Asn1279Ser)	YLPM1 (N1279S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547404	NM_019589.3(YLPM1):c.2060C>G (p.Pro687Arg)	YLPM1 (P687R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545112	NM_019589.3(YLPM1):c.2933C>T (p.Ala978Val)	YLPM1 (A978V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544456	NM_019589.3(YLPM1):c.3019G>A (p.Asp1007Asn)	YLPM1 (D1007N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544060	NM_019589.3(YLPM1):c.2767A>C (p.Asn923His)	YLPM1 (N923H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543144	NM_019589.3(YLPM1):c.2288A>T (p.Asp763Val)	YLPM1 (D763V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535799	NM_019589.3(YLPM1):c.440C>G (p.Pro147Arg)	YLPM1 (P147R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529581	NM_019589.3(YLPM1):c.1195G>A (p.Gly399Ser)	YLPM1 (G399S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529220	NM_019589.3(YLPM1):c.5681A>C (p.Lys1894Thr)	YLPM1 (K1188T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526276	NM_019589.3(YLPM1):c.3986C>T (p.Pro1329Leu)	YLPM1 (P1329L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522398	NM_019589.3(YLPM1):c.1546A>G (p.Met516Val)	YLPM1 (M516V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520122	NM_019589.3(YLPM1):c.5160C>A (p.Asp1720Glu)	YLPM1 (D1720E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519803	NM_019589.3(YLPM1):c.3899A>G (p.Tyr1300Cys)	YLPM1 (Y1300C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519762	NM_019589.3(YLPM1):c.3970C>T (p.Arg1324Cys)	YLPM1 (R1324C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516352	NM_019589.3(YLPM1):c.3727A>G (p.Asn1243Asp)	YLPM1 (N1243D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507560	NM_019589.3(YLPM1):c.5107A>G (p.Ile1703Val)	YLPM1 (I1703V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494994	NM_019589.3(YLPM1):c.4561C>A (p.Pro1521Thr)	YLPM1 (P1521T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494423	NM_019589.3(YLPM1):c.2026T>C (p.Ser676Pro)	YLPM1 (S676P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491526	NM_019589.3(YLPM1):c.3874C>T (p.Arg1292Trp)	YLPM1 (R1292W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490177	NM_019589.3(YLPM1):c.2369C>T (p.Pro790Leu)	YLPM1 (P790L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488754	NM_019589.3(YLPM1):c.2224G>A (p.Gly742Ser)	YLPM1 (G742S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484368	NM_019589.3(YLPM1):c.5136T>G (p.Asp1712Glu)	YLPM1 (D1712E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481921	NM_019589.3(YLPM1):c.394C>G (p.Arg132Gly)	YLPM1 (R132G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474955	NM_019589.3(YLPM1):c.5686G>A (p.Val1896Ile)	YLPM1 (V1190I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474691	NM_019589.3(YLPM1):c.3020A>G (p.Asp1007Gly)	YLPM1 (D1007G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464352	NM_019589.3(YLPM1):c.496C>G (p.Pro166Ala)	YLPM1 (P166A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460679	NM_019589.3(YLPM1):c.2849A>T (p.Lys950Met)	YLPM1 (K950M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459506	NM_019589.3(YLPM1):c.5128A>C (p.Lys1710Gln)	YLPM1 (K1004Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455544	NM_019589.3(YLPM1):c.2617C>G (p.Gln873Glu)	YLPM1 (Q873E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409128	NM_019589.3(YLPM1):c.1094C>T (p.Pro365Leu)	YLPM1 (P365L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407410	NM_019589.3(YLPM1):c.5149A>G (p.Arg1717Gly)	YLPM1 (R1011G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406446	NM_019589.3(YLPM1):c.5273G>A (p.Arg1758Lys)	YLPM1 (R1758K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394556	NM_019589.3(YLPM1):c.698C>T (p.Ser233Phe)	YLPM1 (S233F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394445	NM_019589.3(YLPM1):c.4160G>A (p.Arg1387Gln)	YLPM1 (R1387Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383114	NM_019589.3(YLPM1):c.617C>G (p.Ser206Cys)	YLPM1 (S206C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371679	NM_019589.3(YLPM1):c.2350C>T (p.Arg784Cys)	YLPM1 (R784C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369105	NM_019589.3(YLPM1):c.6203G>A (p.Arg2068His)	YLPM1 (R1362H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368289	NM_019589.3(YLPM1):c.3396G>T (p.Glu1132Asp)	YLPM1 (E1132D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367900	NM_019589.3(YLPM1):c.1687C>T (p.Pro563Ser)	YLPM1 (P563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360501	NM_019589.3(YLPM1):c.2050A>G (p.Thr684Ala)	YLPM1 (T684A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357488	NM_019589.3(YLPM1):c.379A>C (p.Met127Leu)	YLPM1 (M127L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354112	NM_019589.3(YLPM1):c.2045C>T (p.Pro682Leu)	YLPM1 (P682L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349720	NM_019589.3(YLPM1):c.4930C>A (p.His1644Asn)	YLPM1 (H1644N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346128	NM_019589.3(YLPM1):c.2767A>G (p.Asn923Asp)	YLPM1 (N923D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2344731	NM_019589.3(YLPM1):c.1597A>G (p.Met533Val)	YLPM1 (M533V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343772	NM_019589.3(YLPM1):c.760C>G (p.Pro254Ala)	YLPM1 (P254A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338950	NM_019589.3(YLPM1):c.2089C>A (p.Gln697Lys)	YLPM1 (Q697K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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