ClinVar (all) for Orgtrack (Select 507949) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299703	NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del)	GLIS2	Deletion (inframe_deletion)	Nephronophthisis 7 +1 more	GConflicting classifications of pathogenicity
Select item 1098919	NM_005559.4(LAMA1):c.1281C>A (p.Cys427Ter)	LAMA1 (C427*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1098918	NM_005559.4(LAMA1):c.2962del (p.Tyr988fs)	LAMA1 (Y988fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1098870	NM_005559.4(LAMA1):c.281A>G (p.Gln94Arg)	LAMA1 (Q94R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 1098869	NM_005559.4(LAMA1):c.3053del (p.Pro1018fs)	LAMA1 (P1018fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1098868	NM_005559.4(LAMA1):c.494del (p.Ile165fs)	LAMA1 (I165fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 996537	NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +4 more	GPathogenic/Likely pathogenic
Select item 523859	NM_005559.4(LAMA1):c.2344C>T (p.Arg782Ter)	LAMA1 (R782*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 521310	NM_005559.4(LAMA1):c.3397C>T (p.Arg1133Ter)	LAMA1 (R1133*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic