ClinVar for Gene (Select 11234) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366444	NM_181507.2(HPS5):c.2620A>G (p.Ile874Val)	HPS5 (I760V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355237	NM_181507.2(HPS5):c.2546T>C (p.Val849Ala)	HPS5 (V735A +1 more)	Single nucleotide variant (missense variant)	HPS5-related disorder	GUncertain significance
Select item 3347410	NM_181507.2(HPS5):c.3155G>A (p.Ser1052Asn)	HPS5 (S1052N +1 more)	Single nucleotide variant (missense variant)	HPS5-related disorder	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 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 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 3244791	NC_000011.9:g.(?_18322355)_(18322483_?)del	HPS5	Deletion	not provided	GPathogenic
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 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 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 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 3068161	NM_181507.2(HPS5):c.3373T>G (p.Trp1125Gly)	HPS5 (W1011G +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 3023325	NM_181507.2(HPS5):c.1324-21_1324-20dup	HPS5	Duplication (intron variant)	not provided	GLikely benign
Select item 3023175	NM_181507.2(HPS5):c.3066C>T (p.Ile1022=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022535	NM_181507.2(HPS5):c.2517C>T (p.Asp839=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020103	NM_181507.2(HPS5):c.1270_1271insA (p.Phe424fs)	HPS5 (F424fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 3019885	NM_181507.2(HPS5):c.807C>G (p.Leu269=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019035	NM_181507.2(HPS5):c.739dup (p.Glu247fs)	HPS5 (E247fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 3017071	NM_181507.2(HPS5):c.1404del (p.Ser469fs)	HPS5 (S355fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3016778	NM_181507.2(HPS5):c.1419A>G (p.Gln473=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015530	NM_181507.2(HPS5):c.801A>C (p.Pro267=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012564	NM_181507.2(HPS5):c.975T>C (p.Ser325=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012540	NM_181507.2(HPS5):c.2295G>A (p.Leu765=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011694	NM_181507.2(HPS5):c.815_822del (p.Ile272fs)	HPS5 (I272fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3011582	NM_181507.2(HPS5):c.1581A>G (p.Pro527=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011537	NM_181507.2(HPS5):c.3329+7T>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010682	NM_181507.2(HPS5):c.2889A>G (p.Leu963=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010458	NM_181507.2(HPS5):c.3240A>G (p.Ser1080=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010412	NM_181507.2(HPS5):c.3135C>A (p.Pro1045=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007756	NM_181507.2(HPS5):c.3096C>T (p.Leu1032=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007478	NM_181507.2(HPS5):c.930A>T (p.Gly310=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007305	NM_181507.2(HPS5):c.948T>C (p.Pro316=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006952	NM_181507.2(HPS5):c.2056del (p.Glu686fs)	HPS5 (E686fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3005435	NM_181507.2(HPS5):c.1389A>G (p.Ser463=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004997	NM_181507.2(HPS5):c.478-14C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004942	NM_181507.2(HPS5):c.2440+15G>C	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004540	NM_181507.2(HPS5):c.1089C>G (p.Arg363=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003950	NM_181507.2(HPS5):c.1479A>C (p.Pro493=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003562	NM_181507.2(HPS5):c.1908G>C (p.Leu636=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002709	NM_181507.2(HPS5):c.3059-11T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002512	NM_181507.2(HPS5):c.2837+1G>C	HPS5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3001729	NM_181507.2(HPS5):c.3059-16C>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001608	NM_181507.2(HPS5):c.220-17T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001260	NM_181507.2(HPS5):c.3330-4del	HPS5	Deletion (intron variant)	not provided	GLikely benign
Select item 3001114	NM_181507.2(HPS5):c.3059-12G>T	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000317	NM_181507.2(HPS5):c.2085T>G (p.Ser695=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000284	NM_181507.2(HPS5):c.2718-8T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000053	NM_181507.2(HPS5):c.612-7A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999768	NM_181507.2(HPS5):c.1635-15T>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998283	NM_181507.2(HPS5):c.1863-19A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997486	NM_181507.2(HPS5):c.1302A>G (p.Arg434=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996708	NM_181507.2(HPS5):c.519A>T (p.Thr173=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996440	NM_181507.2(HPS5):c.611+15C>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994717	NM_181507.2(HPS5):c.1324G>T (p.Glu442Ter)	HPS5 (E442* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2994525	NM_181507.2(HPS5):c.1784+1_1784+11del	HPS5	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2994346	NM_181507.2(HPS5):c.3246A>G (p.Leu1082=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994236	NM_181507.2(HPS5):c.543G>A (p.Gln181=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994189	NM_181507.2(HPS5):c.1862+14G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994065	NM_181507.2(HPS5):c.777G>A (p.Gln259=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992251	NM_181507.2(HPS5):c.2577T>C (p.Phe859=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992051	NM_181507.2(HPS5):c.2667G>A (p.Glu889=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991369	NM_181507.2(HPS5):c.387C>T (p.Leu129=)	HPS5, LOC130005404	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990911	NM_181507.2(HPS5):c.591del (p.Phe198fs)	HPS5 (F84fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2990037	NM_181507.2(HPS5):c.611+15del	HPS5	Deletion (intron variant)	not provided	GLikely benign
Select item 2989465	NM_181507.2(HPS5):c.611+19A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989181	NM_181507.2(HPS5):c.825-6T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985701	NM_181507.2(HPS5):c.2181C>T (p.Cys727=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985458	NM_181507.2(HPS5):c.1948dup (p.Thr650fs)	HPS5 (T536fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2985306	NM_181507.2(HPS5):c.2256T>C (p.Ser752=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983804	NM_181507.2(HPS5):c.1439_1440del (p.Arg480fs)	HPS5 (R480fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2981705	NM_181507.2(HPS5):c.1515T>C (p.Asn505=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981349	NM_181507.2(HPS5):c.2718-18T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981222	NM_181507.2(HPS5):c.1784+19del	HPS5	Deletion (intron variant)	not provided	GLikely benign
Select item 2981048	NM_181507.2(HPS5):c.1569G>C (p.Pro523=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980947	NM_181507.2(HPS5):c.69A>G (p.Pro23=)	HPS5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980717	NM_181507.2(HPS5):c.2440+17C>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980286	NM_181507.2(HPS5):c.1510+16G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979812	NM_181507.2(HPS5):c.300T>G (p.Val100=)	HPS5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2979267	NM_181507.2(HPS5):c.1893T>C (p.Phe631=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978966	NM_181507.2(HPS5):c.75C>G (p.Leu25=)	HPS5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978590	NM_181507.2(HPS5):c.723A>G (p.Pro241=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977562	NM_181507.2(HPS5):c.642A>G (p.Glu214=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976743	NM_181507.2(HPS5):c.2441-18A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976487	NM_181507.2(HPS5):c.1686G>A (p.Thr562=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976145	NM_181507.2(HPS5):c.2562-9T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975194	NM_181507.2(HPS5):c.612-7A>T	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975102	NM_181507.2(HPS5):c.2440+14T>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974336	NM_181507.2(HPS5):c.1617T>C (p.Leu539=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973350	NM_181507.2(HPS5):c.3330-14C>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972677	NM_181507.2(HPS5):c.477+1G>A	HPS5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2971520	NM_181507.2(HPS5):c.3059-14dup	HPS5	Duplication (intron variant)	not provided	GLikely benign
Select item 2971184	NM_181507.2(HPS5):c.1511-17C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971139	NM_181507.2(HPS5):c.1634+7C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969589	NM_181507.2(HPS5):c.2717+15A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969196	NM_181507.2(HPS5):c.2440+7C>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968190	NM_181507.2(HPS5):c.643A>G (p.Arg215Gly)	HPS5 (R215G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967105	NM_181507.2(HPS5):c.612-15C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966255	NM_181507.2(HPS5):c.537T>A (p.Val179=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965900	NM_181507.2(HPS5):c.2931A>G (p.Thr977=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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