"Blueprint Genetics"[submitter] AND "AHI1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867054	NM_001134831.2(AHI1):c.3364C>T (p.Arg1122Ter)	AHI1 (R1122*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 377455	NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)	AHI1 (R1066*)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 624266	NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)	AHI1 (S1011*)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +3 more	GPathogenic/Likely pathogenic
Select item 280290	NM_001134831.2(AHI1):c.2988del (p.Val997fs)	AHI1 (V997fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 389095	NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)	AHI1 (C905S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 858292	NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)	AHI1 (R891*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 867068	NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)	AHI1 (D828A)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 866290	NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs)	AHI1 (C751fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 866794	NM_001134831.2(AHI1):c.2132_2146del (p.Glu711_Thr715del)	AHI1	Deletion (inframe_deletion)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 867053	NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter)	AHI1 (S604*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 867052	NM_001134831.2(AHI1):c.1678C>G (p.Pro560Ala)	AHI1 (P560A)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866291	NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys)	AHI1 (R495C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 866095	NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro)	AHI1 (L434P)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 217523	NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	AHI1 (Q423*)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic
Select item 857917	NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)	AHI1 (L338W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 30760	NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)	AHI1 (R329*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 847622	NM_001134831.2(AHI1):c.703dup (p.Arg235fs)	AHI1 (R235fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic