ClinVar (all) for Orgtrack (Select 507367) - ClinVar - NCBI

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

Links from Orgtrack

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576966	NM_005548.3(KARS1):c.1076C>T (p.Ser359Leu)	KARS1 (S203L +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GUncertain significance
Select item 2576965	NM_005548.3(KARS1):c.1328T>C (p.Leu443Pro)	KARS1 (L287P +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	GLikely pathogenic
Select item 2576964	NM_005548.3(KARS1):c.1601G>A (p.Cys534Tyr)	KARS1 (C378Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2504643	NM_001384125.1(BLTP1):c.1310G>A (p.Gly437Glu)	BLTP1 (G437E)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 2429335	NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)	P3H1 (R214*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8	GPathogenic
Select item 2429334	NM_022356.4(P3H1):c.1873G>A (p.Gly625Arg)	P3H1 (G625R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 996152	NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile)	PKHD1 (T3208I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	CFAP298, ATP5PO +28 more	Copy number loss	21q22.11q22.12 microdeletion syndrome	GPathogenic
Select item 547985	NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)	KARS1 (R258S +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, infantile-onset, with or without deafness +2 more	GConflicting classifications of pathogenicity