ClinVar (all) for Orgtrack (Select 507036) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062351	NM_006517.5(SLC16A2):c.454G>T (p.Gly152Cys)	SLC16A2 (G152C)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GLikely pathogenic
Select item 2690931	NM_000278.5(PAX2):c.166C>T (p.Arg56Trp)	PAX2 (R56W +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic
Select item 2687870	NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs)	ATP6V0A2 (Y753fs)	Duplication (frameshift variant)	Cutis laxa with osteodystrophy	GPathogenic
Select item 2627892	NM_207361.6(FREM2):c.7546dup (p.Val2516fs)	FREM2 (V2516fs)	Duplication (frameshift variant)	Fraser syndrome 2	GLikely pathogenic
Select item 2583092	NM_207361.6(FREM2):c.2689C>T (p.Gln897Ter)	FREM2 (Q897*)	Single nucleotide variant (nonsense)	Fraser syndrome 2	GPathogenic
Select item 2267054	NM_001377.3(DYNC2H1):c.7720G>A (p.Val2574Ile)	DYNC2H1 (V2574I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2041183	NM_000531.6(OTC):c.634G>A (p.Gly212Arg)	OTC (G212R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 998021	NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro)	TMEM67 (S159P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 935343	NM_000531.6(OTC):c.959G>C (p.Arg320Pro)	OTC (R320P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 446570	NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)	DYNC2H1 (R3532* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 216826	NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	TMEM67 (N161S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic