"Ambry Genetics"[submitter] AND "HPS5"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1491034	NM_181507.2(HPS5):c.3365G>A (p.Arg1122Gln)	HPS5 (R1122Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1405841	NM_181507.2(HPS5):c.3317A>C (p.Glu1106Ala)	HPS5 (E992A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1380857	NM_181507.2(HPS5):c.3226G>A (p.Asp1076Asn)	HPS5 (D962N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1475980	NM_181507.2(HPS5):c.3097C>T (p.Leu1033Phe)	HPS5 (L1033F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1628267	NM_181507.2(HPS5):c.3041T>A (p.Leu1014Gln)	HPS5 (L1014Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3284738	NM_181507.2(HPS5):c.3025C>G (p.Leu1009Val)	HPS5 (L1009V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284737	NM_181507.2(HPS5):c.2929A>G (p.Thr977Ala)	HPS5 (T863A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536961	NM_181507.2(HPS5):c.2893A>C (p.Lys965Gln)	HPS5 (K851Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1518579	NM_181507.2(HPS5):c.2789T>G (p.Leu930Arg)	HPS5 (L930R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3284740	NM_181507.2(HPS5):c.2722T>A (p.Ser908Thr)	HPS5 (S794T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243453	NM_181507.2(HPS5):c.2585C>G (p.Ser862Cys)	HPS5 (S862C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1490749	NM_181507.2(HPS5):c.2521G>A (p.Val841Ile)	HPS5 (V727I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 303875	NM_181507.2(HPS5):c.2521G>T (p.Val841Phe)	HPS5 (V841F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2282563	NM_181507.2(HPS5):c.2475G>A (p.Met825Ile)	HPS5 (M711I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320138	NM_181507.2(HPS5):c.2458C>G (p.Pro820Ala)	HPS5 (P706A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1404716	NM_181507.2(HPS5):c.2438A>G (p.Lys813Arg)	HPS5 (K699R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 730592	NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn)	HPS5 (S687N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1501182	NM_181507.2(HPS5):c.2374G>A (p.Glu792Lys)	HPS5 (E678K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1350738	NM_181507.2(HPS5):c.2369C>T (p.Ala790Val)	HPS5 (A790V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3284739	NM_181507.2(HPS5):c.2311G>A (p.Glu771Lys)	HPS5 (E771K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1413293	NM_181507.2(HPS5):c.2201G>A (p.Arg734Gln)	HPS5 (R734Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1558625	NM_181507.2(HPS5):c.2182G>A (p.Ala728Thr)	HPS5 (A614T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 2383611	NM_181507.2(HPS5):c.2152G>A (p.Asp718Asn)	HPS5 (D604N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2555738	NM_181507.2(HPS5):c.2131A>G (p.Arg711Gly)	HPS5 (R597G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106855	NM_181507.2(HPS5):c.2104G>A (p.Val702Ile)	HPS5 (V588I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2321695	NM_181507.2(HPS5):c.2090G>T (p.Gly697Val)	HPS5 (G583V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1350739	NM_181507.2(HPS5):c.1967T>C (p.Phe656Ser)	HPS5 (F542S +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 435457	NM_181507.2(HPS5):c.1892T>G (p.Phe631Cys)	HPS5 (F631C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1508523	NM_181507.2(HPS5):c.1880C>G (p.Pro627Arg)	HPS5 (P627R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879742	NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr)	HPS5 (K476T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1433190	NM_181507.2(HPS5):c.1754C>T (p.Ser585Leu)	HPS5 (S585L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498013	NM_181507.2(HPS5):c.1690C>T (p.Pro564Ser)	HPS5 (P564S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2556075	NM_181507.2(HPS5):c.1597C>G (p.Pro533Ala)	HPS5 (P419A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303889	NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu)	HPS5 (S499L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1386263	NM_181507.2(HPS5):c.1411C>T (p.His471Tyr)	HPS5 (H471Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2306028	NM_181507.2(HPS5):c.1388C>T (p.Ser463Leu)	HPS5 (S463L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737389	NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)	HPS5 (R339C +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5 +3 more	GConflicting classifications of pathogenicity
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 1443759	NM_181507.2(HPS5):c.1017A>C (p.Glu339Asp)	HPS5 (E225D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2234094	NM_181507.2(HPS5):c.972G>C (p.Trp324Cys)	HPS5 (W324C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1519194	NM_181507.2(HPS5):c.907G>A (p.Val303Met)	HPS5 (V303M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1429956	NM_181507.2(HPS5):c.905G>A (p.Cys302Tyr)	HPS5 (C188Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2340080	NM_181507.2(HPS5):c.868T>G (p.Leu290Val)	HPS5 (L290V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1420364	NM_181507.2(HPS5):c.865T>A (p.Ser289Thr)	HPS5 (S175T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2282918	NM_181507.2(HPS5):c.844C>T (p.His282Tyr)	HPS5 (H282Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106859	NM_181507.2(HPS5):c.836A>G (p.Gln279Arg)	HPS5 (Q165R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1463607	NM_181507.2(HPS5):c.782A>G (p.Lys261Arg)	HPS5 (K261R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1404234	NM_181507.2(HPS5):c.718C>T (p.Arg240Cys)	HPS5 (R240C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3106858	NM_181507.2(HPS5):c.652G>A (p.Glu218Lys)	HPS5 (E218K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278355	NM_181507.2(HPS5):c.551A>T (p.Tyr184Phe)	HPS5 (Y184F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171031	NM_181507.2(HPS5):c.514A>G (p.Ile172Val)	HPS5 (I58V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314678	NM_181507.2(HPS5):c.498G>A (p.Met166Ile)	HPS5 (M166I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1427464	NM_181507.2(HPS5):c.403A>G (p.Ile135Val)	HPS5 (I135V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 197894	NM_181507.2(HPS5):c.345G>A (p.Met115Ile)	HPS5, LOC130005404 (M115I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 2546160	NM_181507.2(HPS5):c.326G>A (p.Arg109His)	HPS5, LOC130005404 (R109H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106856	NM_181507.2(HPS5):c.298G>C (p.Val100Leu)	HPS5 (V100L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1376971	NM_181507.2(HPS5):c.229A>G (p.Ile77Val)	HPS5 (I77V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1473971	NM_181507.2(HPS5):c.179A>G (p.Gln60Arg)	HPS5 (Q60R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1965591	NM_181507.2(HPS5):c.172C>T (p.Leu58Phe)	HPS5 (L58F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1404096	NM_181507.2(HPS5):c.85C>T (p.Arg29Trp)	HPS5 (R29W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 64