ClinVar for OMIM (Select 605570) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686965	NM_001080467.3(MYO5B):c.4460-1G>C	MYO5B, SNHG22	Single nucleotide variant (splice acceptor variant)	Congenital microvillous atrophy	GPathogenic
Select item 1686964	NM_001080467.3(MYO5B):c.4366C>T (p.Gln1456Ter)	MYO5B, SNHG22	Single nucleotide variant (nonsense)	Congenital microvillous atrophy	GPathogenic
Select item 1686945	NM_001080467.3(MYO5B):c.356A>G (p.Tyr119Cys)	MYO5B	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10	GPathogenic
Select item 1013503	NM_017752.3(TBC1D8B):c.1383G>A (p.Trp461Ter)	TBC1D8B (W461*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 20	GPathogenic
Select item 1013502	NM_017752.3(TBC1D8B):c.190C>T (p.Arg64Cys)	TBC1D8B (R64C)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 20	GPathogenic
Select item 1013501	NM_017752.3(TBC1D8B):c.2338A>T (p.Thr780Ser)	TBC1D8B (T780S)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 20	GPathogenic
Select item 619097	NM_001318525.2(TRAPPC2L):c.109G>T (p.Asp37Tyr)	TRAPPC2L (D37Y +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	GPathogenic
Select item 88737	NM_005148.4(UNC119):c.65G>T (p.Gly22Val)	LOC130060555, UNC119 (G22V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1289	NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)	ZFYVE27 (G191V +9 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity