ClinVar (all) for Orgtrack (Select 505843) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374929	NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs)	BCKDHA (N134fs)	Indel (frameshift variant)	Maple syrup urine disease	GPathogenic
Select item 373897	NM_153766.3(KCNJ1):c.262A>T (p.Lys88Ter)	KCNJ1 (K88* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2	GPathogenic
Select item 373896	NM_000091.5(COL4A3):c.3955G>A (p.Gly1319Arg)	COL4A3, MFF-DT (G1319R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 370033	NM_001278293.3(ARL6):c.351_353delinsGAAAA (p.Asp117fs)	ARL6 (D117fs)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 3	GPathogenic
Select item 370029	NM_003361.4(UMOD):c.490G>T (p.Glu164Ter)	UMOD (E164* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GPathogenic
Select item 369846	NM_170784.3(MKKS):c.1334T>G (p.Leu445Ter)	MKKS (L445*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 253209	NM_004937.3(CTNS):c.120del (p.Asn41fs)	CTNS (N41fs)	Deletion (frameshift variant +2 more)	Cystinosis	GPathogenic
Select item 253208	NM_004937.3(CTNS):c.91dup (p.Val31fs)	CTNS (V31fs)	Duplication (frameshift variant +2 more)	Cystinosis	GPathogenic
Select item 253207	NM_004937.2:c.661insT	CTNS	Insertion	Cystinosis	GPathogenic
Select item 253206	NM_004937.3(CTNS):c.257_258del (p.Ser86fs)	CTNS, CTNS-AS1 (S86fs)	Microsatellite (frameshift variant +1 more)	Ocular cystinosis +2 more	GPathogenic
Select item 253205	NM_004937.3(CTNS):c.323del (p.Gln108fs)	CTNS, CTNS-AS1 (Q108fs)	Deletion (frameshift variant +1 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic