C0431399[trait identifier] AND "University of Washington Center for Me - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336766	NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)	WDPCP (E365G +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +4 more	GUncertain significance
Select item 427931	NM_001352754.2(ARMC9):c.51+5G>T	ARMC9	Single nucleotide variant (intron variant)	Joubert syndrome 30	GUncertain significance
Select item 427930	NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)	ARMC9 (G69R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 427933	NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)	ARMC9 (R87*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 427937	NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)	ARMC9 (R343S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 30	GUncertain significance
Select item 427932	NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)	ARMC9 (R343C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 30 +1 more	GPathogenic/Likely pathogenic
Select item 427939	NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys)	ARMC9 (R446C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 427935	NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)	ARMC9 (G492R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 427934	NM_001352754.2(ARMC9):c.1474+1G>C	ARMC9	Single nucleotide variant (splice donor variant)	Joubert syndrome 30 +2 more	GPathogenic/Likely pathogenic
Select item 427936	NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu)	ARMC9 (P520L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 30 +2 more	GPathogenic/Likely pathogenic
Select item 979055	NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)	TOGARAM1 (Q362*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 917940	NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)	TOGARAM1 (R368W)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 979059	NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)	TOGARAM1 (A371D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 979053	NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)	TOGARAM1 (L375P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 979058	NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)	TOGARAM1 (S1083*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 979054	NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)	TOGARAM1 (R1311C)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 979060	NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)	TOGARAM1 (R1675* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 979056	Single allele	TOGARAM1	Deletion	Familial aplasia of the vermis	GLikely pathogenic
Select item 834002	NM_025139.4(ARMC9):c.1211_1334del	ARMC9	Deletion	Familial aplasia of the vermis	GLikely pathogenic