ClinVar (all) for Orgtrack (Select 505896) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984915	NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu)	NCDN (P635L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +2 more	GLikely pathogenic
Select item 984914	NM_014284.3(NCDN):c.1492T>C (p.Trp498Arg)	NCDN (W481R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 984913	NM_014284.3(NCDN):c.1433G>A (p.Arg478Gln)	NCDN (R461Q +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +2 more	GLikely pathogenic
Select item 984912	NM_014284.3(NCDN):c.1297G>C (p.Glu433Gln)	NCDN (E416Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 692152	NM_001011.4(RPS7):c.508-3T>G	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely pathogenic
Select item 562178	NM_173630.4(RTTN):c.5648-5T>A	RTTN	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GPathogenic
Select item 562140	NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 448908	NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)	STRC (Q1343*)	Single nucleotide variant (nonsense)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 427806	NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp)	GRID2 (R710W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 18	GPathogenic
Select item 253023	NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro)	ITPR1 (L1787P +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GPathogenic