ClinVar (all) for Orgtrack (Select 507174) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920658	NM_001009944.3(PKD1):c.3161+5G>C	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2506953	NM_001009944.3(PKD1):c.5936_5949del (p.Cys1979fs)	PKD1 (C1979fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2506952	NM_001009944.3(PKD1):c.12267del (p.Leu4090fs)	PKD1 (L4089fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic/Likely pathogenic
Select item 1723183	NM_033380.3(COL4A5):c.3622G>C (p.Gly1208Arg)	COL4A5 (G1208R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1701913	NM_000642.3(AGL):c.2474del (p.Thr825fs)	AGL (T809fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 1334135	NM_014946.4(SPAST):c.1313T>C (p.Ile438Thr)	SPAST (I405T +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 1321316	NM_000146.4(FTL):c.-161C>G	FTL	Single nucleotide variant (5 prime UTR variant)	Hereditary hyperferritinemia with congenital cataracts	GPathogenic
Select item 1210297	NM_001009944.3(PKD1):c.6729G>T (p.Gln2243His)	PKD1 (Q2243H)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1184444	NM_001172509.2(SATB2):c.1244T>C (p.Leu415Pro)	SATB2 (L415P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1162206	NM_001009944.3(PKD1):c.11289_11299del (p.Gly3764fs)	PKD1, PKD1-AS1 (G3763fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1098920	NM_005670.4(EPM2A):c.745G>A (p.Val249Met)	EPM2A (G168D +3 more)	Single nucleotide variant (missense variant +1 more)	Lafora disease	GLikely pathogenic
Select item 981616	NM_030632.3(ASXL3):c.3298del (p.Ala1100fs)	ASXL3 (A1100fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 657136	NM_020944.3(GBA2):c.266G>C (p.Cys89Ser)	GBA2 (C89S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +2 more	GUncertain significance
Select item 597298	NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln)	ABCC2 (R529Q)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 406420	NM_000335.5(SCN5A):c.2787+1G>T	SCN5A	Single nucleotide variant (splice donor variant)	Brugada syndrome 1 +1 more	GLikely pathogenic
Select item 210967	NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)	EZH2 (D686* +4 more)	Duplication (nonsense)	Weaver syndrome +1 more	GPathogenic/Likely pathogenic