kaya grandifoliola - ClinVar

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Items: 27

The following term was not found in ClinVar: grandifoliola.
Showing results for Khaya grandifoliola. Your search for Khaya grandifoliola retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2875	NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)	PCSK9 (D249Y +4 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GPathogenic/Likely pathogenic
Select item 201129	NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)	PCSK9 (R496W +6 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +7 more	GConflicting classifications of pathogenicity
Select item 30485	NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	ABCG5, DYNC2LI1 (R446*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia +5 more	GPathogenic/Likely pathogenic
Select item 435415	NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	HEXB (R533C +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease	GPathogenic
Select item 135650	NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)	PDGFRB (R695C +2 more)	Single nucleotide variant (missense variant)	Cerebral palsy +5 more	GConflicting classifications of pathogenicity
Select item 1175719	NM_014396.4(VPS41):c.2372G>T (p.Cys791Phe)	VPS41 (C791F +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 2431434	NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)	VPS41 (R642* +1 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive 29	GLikely pathogenic
Select item 1175721	NM_014396.4(VPS41):c.1984C>T (p.Arg662Ter)	VPS41 (R637* +1 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 1175722	NM_014396.4(VPS41):c.1898G>C (p.Arg633Pro)	VPS41 (R633P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 2320801	NM_014396.4(VPS41):c.1615G>A (p.Val539Ile)	VPS41 (V539I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1175720	NM_014396.4(VPS41):c.1423-2A>G	VPS41	Single nucleotide variant (splice acceptor variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 1175718	NM_014396.4(VPS41):c.853T>C (p.Ser285Pro)	VPS41 (S285P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 1065412	NM_014396.4(VPS41):c.450+1G>T	VPS41	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 3335814	NM_004056.6(CA8):c.484G>A (p.Gly162Arg)	CA8	Single nucleotide variant (missense variant +2 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	GPathogenic
Select item 599408	NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln)	KCNA4 (R89Q)	Single nucleotide variant (missense variant)	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	GUncertain significance
Select item 590271	NM_005861.4(STUB1):c.823_824del (p.Leu275fs)	JMJD8, STUB1 (L275fs +1 more)	Deletion (frameshift variant +2 more)	Spinocerebellar ataxia 48 +1 more	GPathogenic/Likely pathogenic
Select item 551174	NM_000049.4(ASPA):c.634+1G>T	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system +2 more	GPathogenic/Likely pathogenic
Select item 533101	NM_199242.3(UNC13D):c.32G>C (p.Arg11Pro)	UNC13D (R11P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 1698457	NC_000017.10:g.(?_3379295)_(3402701_?)del	ASPA	Deletion	Canavan Disease, Familial Form	GPathogenic
Select item 3366656	NM_006949.4(STXBP2):c.971A>G (p.Lys324Arg)	STXBP2 (K292R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 988955	NM_001039672.3(YIF1B):c.696-2A>C	YIF1B	Single nucleotide variant (splice acceptor variant)	Kaya-Barakat-Masson syndrome	GPathogenic
Select item 988951	NM_001039672.3(YIF1B):c.598G>T (p.Glu200Ter)	YIF1B (E200* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988952	NM_001039672.3(YIF1B):c.539+1G>A	YIF1B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3064737	NM_001039672.3(YIF1B):c.463C>T (p.Pro155Ser)	YIF1B (P124S +4 more)	Single nucleotide variant (missense variant)	Kaya-Barakat-Masson syndrome	GUncertain significance
Select item 988954	NM_001039672.3(YIF1B):c.367A>C (p.Lys123Gln)	YIF1B (K123Q +4 more)	Single nucleotide variant (missense variant)	Kaya-Barakat-Masson syndrome	GPathogenic
Select item 988950	NM_001039672.3(YIF1B):c.360_361insACAT (p.Gly121fs)	YIF1B (G104fs +4 more)	Insertion (frameshift variant)	Kaya-Barakat-Masson syndrome	GPathogenic
Select item 985308	NM_001039672.3(YIF1B):c.186dup (p.Ala63fs)	YIF1B (A32fs +4 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic

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Items: 27