ClinVar (all) for Orgtrack (Select 505367) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572088	NM_001982.4(ERBB3):c.2942_2945del	ERBB3	Microsatellite (splice acceptor variant)	Visceral neuropathy, familial, 1, autosomal recessive	GPathogenic
Select item 2572087	NM_001982.4(ERBB3):c.1914-7C>G	ERBB3	Single nucleotide variant (intron variant)	Visceral neuropathy, familial, 1, autosomal recessive	GPathogenic
Select item 1710088	NM_173551.5(ANKS6):c.2394+1G>A	ANKS6	Single nucleotide variant (splice donor variant)	Nephronophthisis 16	GLikely pathogenic
Select item 1710087	NM_173551.5(ANKS6):c.1373G>A (p.Trp458Ter)	ANKS6 (W458*)	Single nucleotide variant (nonsense)	Nephronophthisis 16	GPathogenic
Select item 1172757	NM_012134.3(LMOD1):c.1262G>A (p.Arg421His)	LMOD1 (R421H)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	GPathogenic
Select item 1172756	NM_012134.3(LMOD1):c.1106C>T (p.Thr369Met)	LMOD1 (T369M)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	GPathogenic
Select item 488410	NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter)	PHF6 (R225* +1 more)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome +2 more	GPathogenic
Select item 183400	NC_000007.13:g.69955482_70217682del	LOC129998567, LOC129998568 +12 more	Deletion	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	GPathogenic
Select item 183399	NC_000007.13:g.70236723_72383418del	AUTS2, CALN1 +3 more	Deletion	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	GPathogenic
Select item 183398	Single allele	LOC129998565, LOC129998566 +10 more	Deletion	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	GPathogenic