C3888004[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435454	NM_181507.2(HPS5):c.3059-10G>A	HPS5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303870	NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)	HPS5 (E1016K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 21820	NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs)	HPS5 (T977fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 5 +1 more	GPathogenic
Select item 1406824	NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu)	HPS5 (P842L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 303877	NM_181507.2(HPS5):c.2441-8T>C	HPS5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1428566	NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg)	HPS5 (S598R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1405318	NM_181507.2(HPS5):c.2077del (p.Arg693fs)	HPS5 (R579fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1511391	NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly)	HPS5 (E689G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1351770	NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser)	HPS5 (L533S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1339232	NM_181507.2(HPS5):c.1862+1G>A	HPS5	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 879740	NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)	HPS5 (S488N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 877784	NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)	HPS5 (M398I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1170145	NM_181507.2(HPS5):c.1324-32dup	HPS5	Duplication (intron variant)	Hermansky-Pudlak syndrome 5 +1 more	GBenign
Select item 1492272	NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe)	HPS5 (L226F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1413968	NM_181507.2(HPS5):c.323G>T (p.Arg108Leu)	HPS5, LOC130005404 (R108L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance