ClinVar for MedGen (Select 341734) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 112

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362615	NM_014236.4(GNPAT):c.2010del (p.Pro671fs)	GNPAT (P610fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 3241719	NM_014236.4(GNPAT):c.290_291del (p.Asp97fs)	GNPAT (D36fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241718	NM_014236.4(GNPAT):c.544delinsTT (p.Val182fs)	GNPAT (V121fs +1 more)	Indel (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241717	NM_014236.4(GNPAT):c.805A>T (p.Lys269Ter)	GNPAT (K208* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241716	NM_014236.4(GNPAT):c.1712del (p.Gly571fs)	GNPAT (G510fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241715	NM_014236.4(GNPAT):c.256A>T (p.Lys86Ter)	GNPAT (K86*)	Single nucleotide variant (nonsense +1 more)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 3241714	NM_014236.4(GNPAT):c.876_877del (p.Tyr293fs)	GNPAT (Y232fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675944	NM_014236.4(GNPAT):c.1387del (p.Glu463fs)	GNPAT (E402fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675943	NM_014236.4(GNPAT):c.1743+1G>T	GNPAT	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675942	NM_014236.4(GNPAT):c.1482del (p.Leu494_Val495insTer)	GNPAT	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675941	NM_014236.4(GNPAT):c.1297G>T (p.Glu433Ter)	GNPAT (E372* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675940	NM_014236.4(GNPAT):c.1121del (p.Glu374fs)	GNPAT (E313fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675939	NM_014236.4(GNPAT):c.487C>T (p.Arg163Ter)	GNPAT (R102* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2675938	NM_014236.4(GNPAT):c.1758C>G (p.Tyr586Ter)	GNPAT (Y525* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675937	NM_014236.4(GNPAT):c.1718_1719del (p.Leu572_Phe573insTer)	GNPAT	Deletion (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675936	NM_014236.4(GNPAT):c.1621del (p.Tyr541fs)	GNPAT (Y480fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675935	NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter)	GNPAT (Y60*)	Single nucleotide variant (nonsense +1 more)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675934	NM_014236.4(GNPAT):c.574del (p.Leu192fs)	GNPAT (L131fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675933	NM_014236.4(GNPAT):c.874_877del (p.Leu292fs)	GNPAT (L231fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675932	NM_014236.4(GNPAT):c.913G>T (p.Glu305Ter)	GNPAT (E244* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675931	NM_014236.4(GNPAT):c.26_27del (p.Ser9fs)	GNPAT (S9fs)	Microsatellite (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675930	NM_014236.4(GNPAT):c.807_808del (p.Glu271fs)	GNPAT (E210fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675929	NM_014236.4(GNPAT):c.1622dup (p.Tyr541Ter)	GNPAT (Y480* +1 more)	Duplication (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675928	NM_014236.4(GNPAT):c.1279+1G>T	GNPAT	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2675927	NM_014236.4(GNPAT):c.1058dup (p.Tyr353Ter)	GNPAT (Y292* +1 more)	Duplication (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 2431636	NM_014236.4(GNPAT):c.1502T>A (p.Met501Lys)	GNPAT (M440K +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 1925833	NM_014236.4(GNPAT):c.1158G>A (p.Trp386Ter)	GNPAT (W386* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1467246	NM_014236.4(GNPAT):c.1810G>A (p.Val604Ile)	GNPAT (V543I +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GUncertain significance
Select item 1453740	NM_014236.4(GNPAT):c.1483del (p.Leu494_Val495insTer)	GNPAT	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 1410573	NM_014236.4(GNPAT):c.917C>G (p.Ser306Cys)	GNPAT (S245C +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GUncertain significance
Select item 1324493	NM_014236.4(GNPAT):c.298C>T (p.Arg100Ter)	GNPAT (R100* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 1252036	NM_014236.4(GNPAT):c.569-3T>G	GNPAT	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 2	GPathogenic
Select item 994039	NM_014236.4(GNPAT):c.2021A>T (p.Lys674Ile)	GNPAT (K613I +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GUncertain significance
Select item 876962	NM_014236.4(GNPAT):c.1428C>T (p.Leu476=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GConflicting classifications of pathogenicity
Select item 876961	NM_014236.4(GNPAT):c.1353C>G (p.Asp451Glu)	GNPAT (D390E +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 876914	NM_014236.4(GNPAT):c.-82G>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 876046	NM_014236.4(GNPAT):c.*399G>C	GNPAT	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 876045	NM_014236.4(GNPAT):c.*338A>G	GNPAT	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 875980	NM_014236.4(GNPAT):c.1095T>C (p.Phe365=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GConflicting classifications of pathogenicity
Select item 875979	NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr)	GNPAT (D330Y +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GUncertain significance
Select item 875921	NM_014236.4(GNPAT):c.-153A>C	GNPAT, LOC129932767	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 875100	NM_014236.4(GNPAT):c.*129C>T	GNPAT	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 875099	NM_014236.4(GNPAT):c.*45C>T	GNPAT	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 875098	NM_014236.4(GNPAT):c.*18T>C	GNPAT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 875054	NM_014236.4(GNPAT):c.930G>A (p.Leu310=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GConflicting classifications of pathogenicity
Select item 875053	NM_014236.4(GNPAT):c.924+4C>T	GNPAT	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 874171	NM_014236.4(GNPAT):c.1713A>G (p.Gly571=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GConflicting classifications of pathogenicity
Select item 874170	NM_014236.4(GNPAT):c.1678G>A (p.Glu560Lys)	GNPAT (E499K +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GUncertain significance
Select item 874169	NM_014236.4(GNPAT):c.1668C>T (p.Ile556=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 727943	NM_014236.4(GNPAT):c.747T>C (p.Ser249=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GConflicting classifications of pathogenicity
Select item 716279	NM_014236.4(GNPAT):c.65T>C (p.Val22Ala)	GNPAT (V22A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 692108	NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys)	GNPAT (R187C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 682208	NM_014236.4(GNPAT):c.1056-20C>A	GNPAT	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GBenign/Likely benign
Select item 666971	NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter)	GNPAT (Q87* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 2	GLikely pathogenic
Select item 618667	NM_014236.4(GNPAT):c.1482A>G (p.Leu494=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 587463	NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn)	GNPAT (D97N +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 516533	NM_014236.4(GNPAT):c.925-16G>A	GNPAT	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 2 +2 more	GBenign/Likely benign
Select item 516531	NM_014236.4(GNPAT):c.925-17del	GNPAT	Deletion (intron variant)	Rhizomelic chondrodysplasia punctata type 2 +2 more	GBenign
Select item 508512	NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln)	GNPAT (R210Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 296141	NM_014236.4(GNPAT):c.*389G>A	GNPAT	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296140	NM_014236.4(GNPAT):c.*195C>T	GNPAT	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296138	NM_014236.4(GNPAT):c.*2A>C	GNPAT	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296137	NM_014236.4(GNPAT):c.2023C>T (p.Pro675Ser)	GNPAT (P675S +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296136	NM_014236.4(GNPAT):c.1892C>T (p.Ala631Val)	GNPAT (A631V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 296135	NM_014236.4(GNPAT):c.1890C>T (p.Asn630=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296134	NM_014236.4(GNPAT):c.1744-13C>T	GNPAT	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GConflicting classifications of pathogenicity
Select item 296133	NM_014236.4(GNPAT):c.1680G>A (p.Glu560=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296132	NM_014236.4(GNPAT):c.1648C>G (p.Gln550Glu)	GNPAT (Q550E +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GUncertain significance
Select item 296130	NM_014236.4(GNPAT):c.1488A>G (p.Ala496=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296129	NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile)	GNPAT (V495I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 296128	NM_014236.4(GNPAT):c.1479C>T (p.Ser493=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 296127	NM_014236.4(GNPAT):c.1453C>T (p.Leu485=)	GNPAT	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 296126	NM_014236.4(GNPAT):c.1424T>C (p.Leu475Pro)	GNPAT (L475P +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296125	NM_014236.4(GNPAT):c.1308G>A (p.Pro436=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 296124	NM_014236.4(GNPAT):c.1307C>T (p.Pro436Leu)	GNPAT (P436L +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2 +2 more	GUncertain significance
Select item 296123	NM_014236.4(GNPAT):c.1280-8G>A	GNPAT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296122	NM_014236.4(GNPAT):c.1072C>A (p.Gln358Lys)	GNPAT (Q358K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 296121	NM_014236.4(GNPAT):c.1044C>T (p.Asn348=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296120	NM_014236.4(GNPAT):c.1043A>G (p.Asn348Ser)	GNPAT (N348S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296119	NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln)	GNPAT (R344Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 296118	NM_014236.4(GNPAT):c.1030C>T (p.Arg344Trp)	GNPAT (R344W +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296117	NM_014236.4(GNPAT):c.1007C>A (p.Ser336Tyr)	GNPAT (S336Y +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GUncertain significance
Select item 296116	NM_014236.4(GNPAT):c.798A>G (p.Pro266=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296115	NM_014236.4(GNPAT):c.706G>C (p.Ala236Pro)	GNPAT (A236P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 296114	NM_014236.4(GNPAT):c.608T>A (p.Met203Lys)	GNPAT (M203K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 296113	NM_014236.4(GNPAT):c.476T>C (p.Leu159Pro)	GNPAT (L159P +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296112	NM_014236.4(GNPAT):c.286G>T (p.Val96Leu)	GNPAT (V96L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 296111	NM_014236.4(GNPAT):c.278T>G (p.Leu93Arg)	GNPAT (L93R +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296110	NM_014236.4(GNPAT):c.57C>T (p.Ser19=)	GNPAT	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GConflicting classifications of pathogenicity
Select item 296109	NM_014236.4(GNPAT):c.-6C>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296108	NM_014236.4(GNPAT):c.-44C>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 296107	NM_014236.4(GNPAT):c.-47C>A	GNPAT	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 296106	NM_014236.4(GNPAT):c.-54A>G	GNPAT	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296105	NM_014236.4(GNPAT):c.-84C>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 296104	NM_014236.4(GNPAT):c.-121C>T	GNPAT	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 296103	NM_014236.4(GNPAT):c.-145G>A	GNPAT, LOC129932767	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2 +1 more	GBenign/Likely benign
Select item 296102	NM_014236.4(GNPAT):c.-147G>C	GNPAT, LOC129932767	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 2	GUncertain significance
Select item 260363	NM_014236.4(GNPAT):c.915G>A (p.Glu305=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 260362	NM_014236.4(GNPAT):c.525A>G (p.Leu175=)	GNPAT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 260361	NM_014236.4(GNPAT):c.26C>T (p.Ser9Phe)	GNPAT (S9F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign

<< First< Prev

Page of 2