BLOC1S3[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 214

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 329470	NM_212550.5(BLOC1S3):c.-7C>G	BLOC1S3	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
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 2322030	NM_212550.5(BLOC1S3):c.5C>T (p.Ala2Val)	BLOC1S3 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 748524	NM_212550.5(BLOC1S3):c.13G>A (p.Gly5Ser)	BLOC1S3 (G5S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1369418	NM_212550.5(BLOC1S3):c.17G>A (p.Arg6His)	BLOC1S3 (R6H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548472	NM_212550.5(BLOC1S3):c.31C>T (p.Leu11=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3010696	NM_212550.5(BLOC1S3):c.36G>A (p.Arg12=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038748	NM_212550.5(BLOC1S3):c.42G>A (p.Pro14=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929618	NM_212550.5(BLOC1S3):c.48G>A (p.Thr16=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402810	NM_212550.5(BLOC1S3):c.52G>A (p.Val18Met)	BLOC1S3 (V18M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483172	NM_212550.5(BLOC1S3):c.56C>T (p.Pro19Leu)	BLOC1S3 (P19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786259	NM_212550.5(BLOC1S3):c.63G>A (p.Glu21=)	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 1388168	NM_212550.5(BLOC1S3):c.70G>A (p.Glu24Lys)	BLOC1S3 (E24K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835261	NM_212550.5(BLOC1S3):c.72G>A (p.Glu24=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961381	NM_212550.5(BLOC1S3):c.86G>A (p.Arg29His)	BLOC1S3 (R29H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703821	NM_212550.5(BLOC1S3):c.86G>T (p.Arg29Leu)	BLOC1S3 (R29L)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 8	GUncertain significance
Select item 1449613	NM_212550.5(BLOC1S3):c.86G>C (p.Arg29Pro)	BLOC1S3 (R29P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1951821	NM_212550.5(BLOC1S3):c.87C>A (p.Arg29=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944317	NM_212550.5(BLOC1S3):c.89C>G (p.Ser30Cys)	BLOC1S3 (S30C)	Single nucleotide variant (missense variant)	not provided	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 178706	NM_212550.5(BLOC1S3):c.92C>T (p.Ala31Val)	BLOC1S3 (A31V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1673993	NM_212550.5(BLOC1S3):c.93G>T (p.Ala31=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2114627	NM_212550.5(BLOC1S3):c.96C>T (p.Ser32=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903995	NM_212550.5(BLOC1S3):c.97TCG[1] (p.Ser34del)	BLOC1S3 (S34del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1946840	NM_212550.5(BLOC1S3):c.98C>T (p.Ser33Leu)	BLOC1S3 (S33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744441	NM_212550.5(BLOC1S3):c.99G>C (p.Ser33=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2063806	NM_212550.5(BLOC1S3):c.100_101inv (p.Ser34Glu)	BLOC1S3 (S34E)	Inversion (missense variant)	not provided +1 more	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 1415524	NM_212550.5(BLOC1S3):c.103_104inv (p.Glu35Ser)	BLOC1S3 (E35S)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2097339	NM_212550.5(BLOC1S3):c.105G>A (p.Glu35=)	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 2996517	NM_212550.5(BLOC1S3):c.120C>T (p.Tyr40=)	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 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 1351839	NM_212550.5(BLOC1S3):c.127C>T (p.Pro43Ser)	BLOC1S3 (P43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431167	NM_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter)	BLOC1S3 (S44*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 8	GPathogenic
Select item 1399761	NM_212550.5(BLOC1S3):c.133G>A (p.Gly45Ser)	BLOC1S3 (G45S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2869020	NM_212550.5(BLOC1S3):c.135C>T (p.Gly45=)	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 2826511	NM_212550.5(BLOC1S3):c.144C>T (p.Arg48=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 226463	NM_212550.5(BLOC1S3):c.144C>A (p.Arg48=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1895938	NM_212550.5(BLOC1S3):c.148C>T (p.Arg50Cys)	BLOC1S3 (R50C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908495	NM_212550.5(BLOC1S3):c.160C>T (p.Leu54=)	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 2969268	NM_212550.5(BLOC1S3):c.177A>G (p.Glu59=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903561	NM_212550.5(BLOC1S3):c.178G>A (p.Ala60Thr)	BLOC1S3 (A60T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666465	NM_212550.5(BLOC1S3):c.180C>T (p.Ala60=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444062	NM_212550.5(BLOC1S3):c.181G>A (p.Ala61Thr)	BLOC1S3 (A61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1423079	NM_212550.5(BLOC1S3):c.198GCCGGA[4] (p.66EP[5])	BLOC1S3	Microsatellite (inframe_insertion)	not provided	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 1015982	NM_212550.5(BLOC1S3):c.198GCCGGA[2] (p.66EP[3])	BLOC1S3	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2780222	NM_212550.5(BLOC1S3):c.195G>A (p.Ser65=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892286	NM_212550.5(BLOC1S3):c.198G>A (p.Glu66=)	BLOC1S3	Single nucleotide variant (synonymous 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 1667003	NM_212550.5(BLOC1S3):c.201G>C (p.Pro67=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1518778	NM_212550.5(BLOC1S3):c.204_205delinsTT (p.Glu68_Pro69delinsAspSer)	BLOC1S3	Indel (missense variant)	not provided	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 2790694	NM_212550.5(BLOC1S3):c.213G>A (p.Pro71=)	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 2076833	NM_212550.5(BLOC1S3):c.227C>A (p.Ala76Glu)	BLOC1S3 (A76E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778888	NM_212550.5(BLOC1S3):c.228G>A (p.Ala76=)	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 2778636	NM_212550.5(BLOC1S3):c.234G>A (p.Arg78=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	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 3045934	NM_212550.5(BLOC1S3):c.238C>T (p.Leu80=)	BLOC1S3	Single nucleotide variant (synonymous variant)	BLOC1S3-related disorder	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 3022842	NM_212550.5(BLOC1S3):c.240G>A (p.Leu80=)	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 2981635	NM_212550.5(BLOC1S3):c.255G>A (p.Val85=)	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 1489410	NM_212550.5(BLOC1S3):c.259C>T (p.Arg87Trp)	BLOC1S3 (R87W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710659	NM_212550.5(BLOC1S3):c.267G>A (p.Ser89=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 162790	NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=)	BLOC1S3	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 8 +2 more	GBenign
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 1664147	NM_212550.5(BLOC1S3):c.279C>T (p.Ala93=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634110	NM_212550.5(BLOC1S3):c.279C>G (p.Ala93=)	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 2964647	NM_212550.5(BLOC1S3):c.288G>A (p.Thr96=)	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 1465776	NM_212550.5(BLOC1S3):c.295G>A (p.Ala99Thr)	BLOC1S3 (A99T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821370	NM_212550.5(BLOC1S3):c.300G>T (p.Pro100=)	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 1906475	NM_212550.5(BLOC1S3):c.306C>A (p.Pro102=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1391429	NM_212550.5(BLOC1S3):c.310C>T (p.Pro104Ser)	BLOC1S3 (P104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2070267	NM_212550.5(BLOC1S3):c.315G>A (p.Ala105=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2036171	NM_212550.5(BLOC1S3):c.317G>C (p.Arg106Pro)	BLOC1S3 (R106P)	Single nucleotide variant (missense variant)	not provided	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 2796378	NM_212550.5(BLOC1S3):c.321G>C (p.Ser107=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634767	NM_212550.5(BLOC1S3):c.321G>T (p.Ser107=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 179946	NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val)	BLOC1S3 (L108V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1532550	NM_212550.5(BLOC1S3):c.324C>T (p.Leu108=)	BLOC1S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 3