ClinVar (all) for Orgtrack (Select 507152) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978675	NM_001384125.1(BLTP1):c.692del (p.Phe231fs)	BLTP1 (F231fs)	Deletion (frameshift variant)	Clubfoot +2 more	GLikely pathogenic
Select item 978674	NM_005560.6(LAMA5):c.5635G>A (p.Val1879Ile)	LAMA5 (V1879I)	Single nucleotide variant (missense variant)	Severe hydrocephalus +1 more	GUncertain significance
Select item 978662	NM_000540.3(RYR1):c.2286del (p.Val763fs)	RYR1 (V763fs)	Deletion (frameshift variant)	Hydrops fetalis	GLikely pathogenic
Select item 978661	NM_002890.3(RASA1):c.1900C>T (p.Gln634Ter)	CCNH, RASA1 (Q457* +1 more)	Single nucleotide variant (nonsense +1 more)	Hydrops fetalis +1 more	GUncertain significance
Select item 978660	NM_005055.5(RAPSN):c.1146C>A (p.Cys382Ter)	RAPSN (C323* +1 more)	Single nucleotide variant (nonsense)	Hydrops fetalis	GPathogenic
Select item 978659	NM_031307.4(PUS3):c.340T>C (p.Cys114Arg)	HYLS1, PUS3 (C114R)	Single nucleotide variant (missense variant +1 more)	Aplasia/Hypoplasia of the cerebellum +4 more	GLikely pathogenic
Select item 978657	NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)	HYLS1, PUS3 (R280* +1 more)	Single nucleotide variant (nonsense +1 more)	PUS3-related condition +5 more	GLikely pathogenic
Select item 978656	NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)	POMT1 (Q3* +1 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GPathogenic
Select item 978655	NM_001077365.2(POMT1):c.110_113dup (p.Val40fs)	POMT1 (V40fs)	Microsatellite (frameshift variant +3 more)	Dysgenesis of the cerebellar vermis	GPathogenic
Select item 978654	NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg)	PIEZO1 (G1629R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 978653	NM_001142864.4(PIEZO1):c.4519G>C (p.Val1507Leu)	PIEZO1 (V1507L)	Single nucleotide variant (missense variant)	Thickened nuchal skin fold +2 more	GUncertain significance
Select item 978652	NM_001142864.4(PIEZO1):c.4610_4617dup (p.Ser1540delinsAlaProTer)	PIEZO1	Duplication (nonsense)	Thickened nuchal skin fold +1 more	GLikely pathogenic
Select item 978651	NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs)	LOC100289580, PIEZO1 (C513fs)	Deletion (frameshift variant)	Thickened nuchal skin fold +1 more	GLikely pathogenic
Select item 978650	NM_001142864.4(PIEZO1):c.7184C>T (p.Ala2395Val)	PIEZO1 (A2395V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 978649	NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu)	PIEZO1 (Q1114E)	Single nucleotide variant (missense variant)	PIEZO1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 978648	NM_007363.5(NONO):c.246_249del (p.Pro83fs)	NONO (P83fs)	Deletion (frameshift variant +1 more)	Heart, malformation of	GLikely pathogenic
Select item 978647	NM_018055.5(NODAL):c.169ATC[1] (p.Ile58del)	NODAL (I58del)	Microsatellite (inframe_deletion +1 more)	Heart, malformation of	GUncertain significance
Select item 978646	NM_018055.5(NODAL):c.823C>T (p.Arg275Cys)	NODAL (R142C +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of	GPathogenic
Select item 978645	NM_005560.6(LAMA5):c.5680C>T (p.Arg1894Cys)	LAMA5 (R1894C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 978642	NM_001384125.1(BLTP1):c.14113+11G>C	BLTP1	Single nucleotide variant (intron variant)	Right aortic arch +2 more	GUncertain significance
Select item 978641	NM_001384125.1(BLTP1):c.9153del (p.Val3052fs)	BLTP1 (V3052fs)	Deletion (frameshift variant)	Right aortic arch +2 more	GPathogenic
Select item 978640	NM_001384125.1(BLTP1):c.3323+1G>A	BLTP1	Single nucleotide variant (splice donor variant)	Clubfoot +2 more	GLikely pathogenic
Select item 978637	NM_181789.4(GLDN):c.1027G>A (p.Gly343Ser)	GLDN (G219S +1 more)	Single nucleotide variant (missense variant)	Multiple joint contractures +1 more	GLikely pathogenic
Select item 978636	NM_014009.4(FOXP3):c.1117TTC[1] (p.Phe374del)	FOXP3 (F339del +1 more)	Microsatellite (inframe_deletion)	Hydrops fetalis	GLikely pathogenic
Select item 978635	NM_001377.3(DYNC2H1):c.5920G>T (p.Gly1974Ter)	DYNC2H1 (G1974*)	Single nucleotide variant (nonsense)	Heart, malformation of +4 more	GLikely pathogenic
Select item 978634	NM_001377.3(DYNC2H1):c.9908T>C (p.Ile3303Thr)	DYNC2H1 (I3303T +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +4 more	GUncertain significance
Select item 978633	NM_080680.3(COL11A2):c.1773+8T>A	COL11A2	Single nucleotide variant (intron variant)	Heart, malformation of +3 more	GUncertain significance
Select item 978631	NM_000079.4(CHRNA1):c.119G>A (p.Arg40Gln)	CHRNA1 (R40Q)	Single nucleotide variant (missense variant)	Hydrops fetalis +3 more	GUncertain significance
Select item 978630	NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)	CEP290 (Q1777*)	Single nucleotide variant (nonsense)	Polycystic kidney disease +5 more	GPathogenic
Select item 978629	NM_001112726.3(CEP170B):c.3223C>T (p.Arg1075Trp)	CEP170B (R1005W +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of	GUncertain significance
Select item 978628	NM_001112726.3(CEP170B):c.1102A>G (p.Lys368Glu)	CEP170B (K298E +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of	GUncertain significance
Select item 978627	NM_024491.4(CEP70):c.264A>G (p.Ile88Met)	CEP70 (I68M +2 more)	Single nucleotide variant (missense variant +1 more)	Median cleft lip and palate	GUncertain significance
Select item 978626	NM_024491.4(CEP70):c.1732+104_1732+108del	CEP70	Deletion (intron variant)	Median cleft lip and palate	GUncertain significance
Select item 978625	NM_024491.4(CEP70):c.1732+103G>C	CEP70	Single nucleotide variant (intron variant)	Median cleft lip and palate	GUncertain significance
Select item 978624	NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter)	CC2D2A (L1049* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease +3 more	GPathogenic
Select item 978623	NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter)	CC2D2A (W535* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease +3 more	GPathogenic
Select item 978622	NM_001384732.1(CPLANE1):c.8155_8156del (p.Ser2719fs)	CPLANE1 (S2665fs +1 more)	Microsatellite (frameshift variant)	Polydactyly +3 more	GLikely pathogenic
Select item 978621	NM_001384732.1(CPLANE1):c.3707delinsTT (p.Pro1236fs)	CPLANE1 (P1236fs)	Indel (frameshift variant)	Polydactyly +3 more	GLikely pathogenic
Select item 978620	NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs)	ZRSR2 (R403fs)	Deletion (frameshift variant)	Heart, malformation of +3 more	GLikely pathogenic
Select item 978619	NM_001365999.1(SZT2):c.5732G>A (p.Gly1911Glu)	SZT2 (G1854E +1 more)	Single nucleotide variant (missense variant)	Severe hydrocephalus +1 more	GUncertain significance
Select item 978618	NM_000111.3(SLC26A3):c.1000G>T (p.Glu334Ter)	SLC26A3 (E334*)	Single nucleotide variant (nonsense)	Intestinal obstruction +2 more	GPathogenic
Select item 978616	NM_000111.3(SLC26A3):c.2006C>A (p.Ser669Ter)	SLC26A3 (S669*)	Single nucleotide variant (nonsense)	Gastrointestinal obstruction +2 more	GPathogenic
Select item 978615	NM_001286577.2(C2CD3):c.159_160insC (p.Lys54fs)	C2CD3 (K54fs)	Insertion (frameshift variant)	Rudimentary fibula +1 more	GLikely pathogenic
Select item 715514	NM_001286577.2(C2CD3):c.3741G>C (p.Gln1247His)	C2CD3 (Q1247H)	Single nucleotide variant (missense variant)	Rudimentary fibula +2 more	GConflicting classifications of pathogenicity
Select item 696651	NM_001365999.1(SZT2):c.3638G>A (p.Arg1213His)	SZT2 (R1213H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 548021	NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)	CHRNG (R68*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 497724	NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	COL11A2 (T323fs)	Duplication (frameshift variant +1 more)	Heart, malformation of +8 more	GConflicting classifications of pathogenicity
Select item 440463	NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)	MAGEL2 (Q666fs)	Deletion (frameshift variant)	Generalized hypotonia +4 more	GPathogenic
Select item 430474	NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs)	RAPSN (V50fs)	Indel (frameshift variant)	Congenital myasthenic syndrome +2 more	GPathogenic
Select item 391971	NM_203486.3(DLL3):c.661C>T (p.Arg221Ter)	DLL3 (R221*)	Single nucleotide variant (nonsense)	Rib fusion +2 more	GPathogenic
Select item 268107	NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter)	GLDN (R414* +1 more)	Single nucleotide variant (nonsense)	Polyhydramnios +1 more	GPathogenic
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 55994	NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs)	SLC26A3 (G91fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 18336	NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)	CHRNG (Q5*)	Single nucleotide variant (nonsense)	Arthrogryposis-like hand anomaly +2 more	GLikely pathogenic
Select item 9993	NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)	L1CAM (S1194L +2 more)	Single nucleotide variant (missense variant)	Severe hydrocephalus +4 more	GPathogenic/Likely pathogenic
Select item 1342	NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	CEP290 (R205*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +12 more	GPathogenic

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Items: 56