ClinVar for MedGen (Select 900415) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065702	NM_015202.5(KATNIP):c.3151C>A (p.Pro1051Thr)	KATNIP (P1051T)	Single nucleotide variant (missense variant)	Joubert syndrome 26	GUncertain significance
Select item 2690629	NM_015202.5(KATNIP):c.3632-1G>C	KATNIP	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 26	GLikely pathogenic
Select item 2501211	NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter)	KATNIP (Q308*)	Single nucleotide variant (nonsense)	Joubert syndrome 26	GLikely pathogenic
Select item 2442073	NM_015202.5(KATNIP):c.3239A>G (p.Lys1080Arg)	KATNIP (K1080R)	Single nucleotide variant (missense variant)	Joubert syndrome 26	GUncertain significance
Select item 2431062	NM_015202.5(KATNIP):c.274_275del (p.Phe92fs)	KATNIP (F92fs)	Deletion (frameshift variant)	Joubert syndrome 26	GLikely pathogenic
Select item 2191562	NM_015202.5(KATNIP):c.4850G>A (p.Arg1617His)	KATNIP (R1617H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342577	NM_015202.5(KATNIP):c.2849C>T (p.Ser950Leu)	KATNIP (S950L)	Single nucleotide variant (missense variant)	Joubert syndrome 26 +1 more	GUncertain significance
Select item 1342576	NM_015202.5(KATNIP):c.700A>G (p.Ser234Gly)	KATNIP (S234G)	Single nucleotide variant (missense variant)	Joubert syndrome 26	GUncertain significance
Select item 1334634	NM_015202.5(KATNIP):c.4133+1G>A	KATNIP, LOC126862323	Single nucleotide variant (splice donor variant)	Joubert syndrome 26	GLikely pathogenic
Select item 1327056	NM_015202.5(KATNIP):c.2959del (p.Asp987fs)	KATNIP (D987fs)	Deletion (frameshift variant)	Joubert syndrome 26	GLikely pathogenic
Select item 1098660	NM_015202.5(KATNIP):c.2722C>T (p.Arg908Cys)	KATNIP (R908C)	Single nucleotide variant (missense variant)	Joubert syndrome 26	GUncertain significance
Select item 917945	NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter)	KATNIP (R558*)	Single nucleotide variant (nonsense)	Joubert syndrome 26	GLikely pathogenic
Select item 828110	NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	KATNIP (R17*)	Single nucleotide variant (nonsense)	Joubert syndrome 26 +1 more	GPathogenic/Likely pathogenic
Select item 828109	NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly)	KATNIP (S1571G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 783064	NM_015202.5(KATNIP):c.3719C>T (p.Ala1240Val)	KATNIP (A1240V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 771762	NM_015202.5(KATNIP):c.3913G>A (p.Glu1305Lys)	KATNIP (E1305K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 489396	NM_015202.5(KATNIP):c.4420del (p.Met1474fs)	KATNIP (M1474fs)	Deletion (frameshift variant)	Joubert syndrome 26	GPathogenic
Select item 218948	NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)	KATNIP (Q892*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis	GLikely pathogenic