ClinVar for Gene (Select 388552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366440	NM_212550.5(BLOC1S3):c.34C>T (p.Arg12Trp)	BLOC1S3 (R12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355150	NM_212550.5(BLOC1S3):c.460C>A (p.Leu154Met)	BLOC1S3 (L154M)	Single nucleotide variant (missense variant)	BLOC1S3-related disorder	GUncertain significance
Select item 3339249	NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter)	BLOC1S3 (S34*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome	GPathogenic
Select item 3276779	NM_001382422.1(EXOC3L2):c.2276C>T (p.Pro759Leu)	BLOC1S3, EXOC3L2 (P759L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276778	NM_001382422.1(EXOC3L2):c.2198C>T (p.Ala733Val)	BLOC1S3, EXOC3L2 (A733V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134135	NM_212550.5(BLOC1S3):c.578A>C (p.Glu193Ala)	BLOC1S3 (E193A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091090	NM_001382422.1(EXOC3L2):c.2162G>A (p.Arg721His)	BLOC1S3, EXOC3L2 (R721H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091089	NM_001382422.1(EXOC3L2):c.2146G>A (p.Asp716Asn)	BLOC1S3, EXOC3L2 (D716N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091088	NM_001382422.1(EXOC3L2):c.2005C>G (p.Gln669Glu)	BLOC1S3, EXOC3L2 (Q669E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091083	NM_001382422.1(EXOC3L2):c.2326C>G (p.Leu776Val)	BLOC1S3, EXOC3L2 (L776V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091082	NM_001382422.1(EXOC3L2):c.2188C>G (p.Leu730Val)	BLOC1S3, EXOC3L2 (L730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056510	NM_212550.5(BLOC1S3):c.95C>A (p.Ser32Tyr)	BLOC1S3 (S32Y)	Single nucleotide variant (missense variant)	BLOC1S3-related disorder	GUncertain significance
Select item 3045934	NM_212550.5(BLOC1S3):c.238C>T (p.Leu80=)	BLOC1S3	Single nucleotide variant (synonymous variant)	BLOC1S3-related disorder	GLikely benign
Select item 3032508	NM_212550.5(BLOC1S3):c.-1C>T	BLOC1S3	Single nucleotide variant (5 prime UTR variant)	BLOC1S3-related disorder	GLikely benign
Select item 3029583	NM_212550.5(BLOC1S3):c.237C>T (p.Asp79=)	BLOC1S3	Single nucleotide variant (synonymous variant)	BLOC1S3-related disorder	GLikely benign
Select item 3022842	NM_212550.5(BLOC1S3):c.240G>A (p.Leu80=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010718	NM_212550.5(BLOC1S3):c.190G>T (p.Asp64Tyr)	BLOC1S3 (D64Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010696	NM_212550.5(BLOC1S3):c.36G>A (p.Arg12=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010404	NM_212550.5(BLOC1S3):c.115C>T (p.Leu39=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009740	NM_212550.5(BLOC1S3):c.486G>C (p.Leu162=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996517	NM_212550.5(BLOC1S3):c.120C>T (p.Tyr40=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994274	NM_212550.5(BLOC1S3):c.231G>A (p.Pro77=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989766	NM_001382422.1(EXOC3L2):c.1999-20G>A	BLOC1S3, EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984460	NM_212550.5(BLOC1S3):c.201G>A (p.Pro67=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983147	NM_212550.5(BLOC1S3):c.468G>C (p.Ala156=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981635	NM_212550.5(BLOC1S3):c.255G>A (p.Val85=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978415	NM_212550.5(BLOC1S3):c.576C>T (p.Thr192=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977948	NM_212550.5(BLOC1S3):c.225C>T (p.Ala75=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973408	NM_212550.5(BLOC1S3):c.452C>T (p.Ala151Val)	BLOC1S3 (A151V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2969268	NM_212550.5(BLOC1S3):c.177A>G (p.Glu59=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964647	NM_212550.5(BLOC1S3):c.288G>A (p.Thr96=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962807	NM_212550.5(BLOC1S3):c.480G>A (p.Val160=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918132	NM_212550.5(BLOC1S3):c.492C>T (p.Arg164=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914764	NM_212550.5(BLOC1S3):c.354G>A (p.Ala118=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898955	NM_001382422.1(EXOC3L2):c.2365C>T (p.Arg789Trp)	BLOC1S3, EXOC3L2 (R789W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892286	NM_212550.5(BLOC1S3):c.198G>A (p.Glu66=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885156	NM_212550.5(BLOC1S3):c.459G>A (p.Gly153=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869020	NM_212550.5(BLOC1S3):c.135C>T (p.Gly45=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865510	NM_212550.5(BLOC1S3):c.123G>A (p.Leu41=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865091	NM_212550.5(BLOC1S3):c.363C>T (p.Asp121=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864384	NM_212550.5(BLOC1S3):c.543C>T (p.Arg181=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835261	NM_212550.5(BLOC1S3):c.72G>A (p.Glu24=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826511	NM_212550.5(BLOC1S3):c.144C>T (p.Arg48=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823150	NM_212550.5(BLOC1S3):c.306C>T (p.Pro102=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821370	NM_212550.5(BLOC1S3):c.300G>T (p.Pro100=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821274	NM_212550.5(BLOC1S3):c.513C>G (p.Ala171=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814602	NM_212550.5(BLOC1S3):c.174G>A (p.Gly58=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806282	NM_212550.5(BLOC1S3):c.573G>A (p.Gly191=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798056	NM_212550.5(BLOC1S3):c.285C>T (p.Gly95=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796378	NM_212550.5(BLOC1S3):c.321G>C (p.Ser107=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790729	NM_212550.5(BLOC1S3):c.471C>T (p.Ala157=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790694	NM_212550.5(BLOC1S3):c.213G>A (p.Pro71=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789206	NM_212550.5(BLOC1S3):c.135C>A (p.Gly45=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786259	NM_212550.5(BLOC1S3):c.63G>A (p.Glu21=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785912	NM_212550.5(BLOC1S3):c.258G>A (p.Gln86=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780222	NM_212550.5(BLOC1S3):c.195G>A (p.Ser65=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779591	NM_212550.5(BLOC1S3):c.291G>A (p.Glu97=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778928	NM_212550.5(BLOC1S3):c.325C>T (p.Leu109=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778888	NM_212550.5(BLOC1S3):c.228G>A (p.Ala76=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778636	NM_212550.5(BLOC1S3):c.234G>A (p.Arg78=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755865	NM_212550.5(BLOC1S3):c.378C>A (p.Ala126=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744660	NM_212550.5(BLOC1S3):c.525C>T (p.Asp175=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744441	NM_212550.5(BLOC1S3):c.99G>C (p.Ser33=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736143	NM_212550.5(BLOC1S3):c.240G>T (p.Leu80=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712154	NM_001382422.1(EXOC3L2):c.2388G>A (p.Ala796=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2710659	NM_212550.5(BLOC1S3):c.267G>A (p.Ser89=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708638	NM_212550.5(BLOC1S3):c.66G>A (p.Ala22=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708538	NM_212550.5(BLOC1S3):c.396C>T (p.Tyr132=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650095	NM_001382422.1(EXOC3L2):c.2366G>A (p.Arg789Gln)	BLOC1S3, EXOC3L2 (R789Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618553	NM_001382422.1(EXOC3L2):c.2131G>A (p.Val711Met)	BLOC1S3, EXOC3L2 (V711M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508880	NM_001382422.1(EXOC3L2):c.2403G>C (p.Gln801His)	BLOC1S3, EXOC3L2 (Q801H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467960	NM_212550.5(BLOC1S3):c.205C>T (p.Pro69Ser)	BLOC1S3 (P69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467959	NM_212550.5(BLOC1S3):c.204G>T (p.Glu68Asp)	BLOC1S3 (E68D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2412207	NM_001382422.1(EXOC3L2):c.2194G>A (p.Val732Met)	BLOC1S3, EXOC3L2 (V732M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409977	NM_212550.5(BLOC1S3):c.275A>C (p.Glu92Ala)	BLOC1S3 (E92A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406763	NM_001382422.1(EXOC3L2):c.2261C>T (p.Ala754Val)	BLOC1S3, EXOC3L2 (A754V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405044	NM_001382422.1(EXOC3L2):c.2371C>T (p.Arg791Trp)	BLOC1S3, EXOC3L2 (R791W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368946	NM_001382422.1(EXOC3L2):c.2068C>G (p.Pro690Ala)	BLOC1S3, EXOC3L2 (P690A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357848	NM_001382422.1(EXOC3L2):c.2396G>A (p.Arg799Gln)	BLOC1S3, EXOC3L2 (R799Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357779	NM_212550.5(BLOC1S3):c.100T>G (p.Ser34Ala)	BLOC1S3 (S34A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322030	NM_212550.5(BLOC1S3):c.5C>T (p.Ala2Val)	BLOC1S3 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310476	NM_001382422.1(EXOC3L2):c.2101C>T (p.Arg701Cys)	BLOC1S3, EXOC3L2 (R701C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276553	NM_212550.5(BLOC1S3):c.91G>T (p.Ala31Ser)	BLOC1S3 (A31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267176	NM_001382422.1(EXOC3L2):c.2102G>A (p.Arg701His)	BLOC1S3, EXOC3L2 (R701H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237365	NM_212550.5(BLOC1S3):c.320C>T (p.Ser107Leu)	BLOC1S3 (S107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194604	NM_212550.5(BLOC1S3):c.124G>T (p.Gly42Cys)	BLOC1S3 (G42C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2192206	NM_212550.5(BLOC1S3):c.551C>T (p.Pro184Leu)	BLOC1S3 (P184L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189941	NM_212550.5(BLOC1S3):c.6G>A (p.Ala2=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180618	NM_212550.5(BLOC1S3):c.335G>A (p.Arg112Gln)	BLOC1S3 (R112Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2174576	NM_212550.5(BLOC1S3):c.198GCCGGA[1] (p.66EP[2])	BLOC1S3	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2169955	NM_212550.5(BLOC1S3):c.428C>T (p.Ala143Val)	BLOC1S3 (A143V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150701	NM_212550.5(BLOC1S3):c.308C>T (p.Ala103Val)	BLOC1S3 (A103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150699	NM_212550.5(BLOC1S3):c.507G>A (p.Ala169=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2114627	NM_212550.5(BLOC1S3):c.96C>T (p.Ser32=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110122	NM_212550.5(BLOC1S3):c.239T>A (p.Leu80Gln)	BLOC1S3 (L80Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104936	NM_212550.5(BLOC1S3):c.353C>T (p.Ala118Val)	BLOC1S3 (A118V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099016	NM_001382422.1(EXOC3L2):c.2328C>A (p.Leu776=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097339	NM_212550.5(BLOC1S3):c.105G>A (p.Glu35=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096760	NM_212550.5(BLOC1S3):c.565G>C (p.Val189Leu)	BLOC1S3 (V189L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090084	NM_212550.5(BLOC1S3):c.512C>T (p.Ala171Val)	BLOC1S3 (A171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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