BLOC1S6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	GUncertain significance
Select item 1207080	NC_000015.10:g.45587074T>G	BLOC1S6, LOC130057002	Single nucleotide variant	not provided	GLikely benign
Select item 1357664	NM_012388.4(BLOC1S6):c.3G>A (p.Met1Ile)	BLOC1S6 (M1I)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2875941	NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)	BLOC1S6 (S8fs)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 1514259	NM_012388.4(BLOC1S6):c.14G>T (p.Gly5Val)	BLOC1S6 (G5V)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9 +1 more	GUncertain significance
Select item 1371603	NM_012388.4(BLOC1S6):c.14G>A (p.Gly5Glu)	BLOC1S6 (G5E)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2786870	NM_012388.4(BLOC1S6):c.21G>A (p.Ser7=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1362605	NM_012388.4(BLOC1S6):c.25C>T (p.Pro9Ser)	BLOC1S6 (P9S)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2828478	NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)	BLOC1S6 (A12fs)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 2584834	NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)	BLOC1S6 (G11fs)	Indel (frameshift variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely pathogenic
Select item 434516	NM_012388.4(BLOC1S6):c.34G>A (p.Ala12Thr)	BLOC1S6 (A12T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1589408	NM_012388.4(BLOC1S6):c.36C>T (p.Ala12=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1977152	NM_012388.4(BLOC1S6):c.39G>A (p.Leu13=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2790847	NM_012388.4(BLOC1S6):c.43C>A (p.Arg15=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1027192	NM_012388.4(BLOC1S6):c.43C>T (p.Arg15Trp)	BLOC1S6 (R15W)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2829313	NM_012388.4(BLOC1S6):c.45G>A (p.Arg15=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1042331	NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu)	BLOC1S6 (P16L)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2133777	NM_012388.4(BLOC1S6):c.51C>T (p.Pro17=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 731866	NM_012388.4(BLOC1S6):c.51C>G (p.Pro17=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2804384	NM_012388.4(BLOC1S6):c.63G>A (p.Glu21=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2066467	NM_012388.4(BLOC1S6):c.66C>T (p.Ala22=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1998041	NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)	BLOC1S6 (G23E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2779901	NM_012388.4(BLOC1S6):c.69G>C (p.Gly23=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1088889	NM_012388.4(BLOC1S6):c.69G>A (p.Gly23=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 736248	NM_012388.4(BLOC1S6):c.72G>A (p.Glu24=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1587055	NM_012388.4(BLOC1S6):c.75G>A (p.Pro25=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 565888	NM_012388.4(BLOC1S6):c.79C>T (p.Pro27Ser)	BLOC1S6 (P27S)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9 +1 more	GUncertain significance
Select item 2017307	NM_012388.4(BLOC1S6):c.82G>C (p.Gly28Arg)	BLOC1S6 (G28R)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2791183	NM_012388.4(BLOC1S6):c.82+1G>A	BLOC1S6	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 9	GLikely pathogenic
Select item 2708479	NM_012388.4(BLOC1S6):c.82+1_82+8del	BLOC1S6	Deletion (splice donor variant)	Hermansky-Pudlak syndrome 9	GLikely pathogenic
Select item 2415699	NM_012388.4(BLOC1S6):c.82+1G>T	BLOC1S6	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 9	GLikely pathogenic
Select item 2184106	NM_012388.4(BLOC1S6):c.82+4C>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 971290	NM_012388.4(BLOC1S6):c.82+6del	BLOC1S6	Deletion (intron variant)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 3023458	NM_012388.4(BLOC1S6):c.82+9_82+12del	BLOC1S6	Deletion (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1145289	NM_012388.4(BLOC1S6):c.82+8C>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 316224	NM_012388.4(BLOC1S6):c.82+10A>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GBenign/Likely benign
Select item 2789977	NM_012388.4(BLOC1S6):c.82+11T>C	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1033228	NM_012388.4(BLOC1S6):c.82+12C>T	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2041868	NM_012388.4(BLOC1S6):c.82+14G>T	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2055324	NM_012388.4(BLOC1S6):c.82+17G>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1297549	NM_012388.4(BLOC1S6):c.82+175A>G	BLOC1S6 (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3055147	NM_012388.4(BLOC1S6):c.82+279A>G	BLOC1S6	Single nucleotide variant (non-coding transcript variant +1 more)	BLOC1S6-related disorder	GLikely benign
Select item 1277844	NM_012388.4(BLOC1S6):c.82+280T>C	BLOC1S6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2742147	NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)	BLOC1S6 (S30fs +1 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 1923213	NM_012388.4(BLOC1S6):c.88A>C (p.Ser30Arg)	BLOC1S6 (S30R +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1952947	NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)	BLOC1S6 (S30fs +1 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 1713457	NM_012388.4(BLOC1S6):c.101C>G (p.Pro34Arg)	BLOC1S6 (P34R +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 944792	NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn)	BLOC1S6 (D40N +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1901904	NM_012388.4(BLOC1S6):c.109G>C (p.Gly37Arg)	BLOC1S6 (G37R +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 960854	NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu)	BLOC1S6 (G37E +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 950137	NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val)	BLOC1S6 (I39V +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2099471	NM_012388.4(BLOC1S6):c.120G>A (p.Glu40=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1131012	NM_012388.4(BLOC1S6):c.123C>T (p.Asp41=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1056521	NM_012388.4(BLOC1S6):c.125T>C (p.Leu42Ser)	BLOC1S6 (L42S +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1060079	NM_012388.4(BLOC1S6):c.130A>G (p.Ile44Val)	BLOC1S6 (I44V +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 656143	NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr)	BLOC1S6 (I44T +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9 +1 more	GUncertain significance
Select item 1156313	NM_012388.4(BLOC1S6):c.141A>G (p.Lys47=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1427493	NM_012388.4(BLOC1S6):c.142G>T (p.Ala48Ser)	BLOC1S6 (A48S +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 708957	NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2714192	NM_012388.4(BLOC1S6):c.147G>A (p.Val49=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 3335913	NM_012388.4(BLOC1S6):c.148G>T (p.Glu50Ter)	BLOC1S6 (E55*)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 1345909	NM_012388.4(BLOC1S6):c.152A>G (p.Gln51Arg)	BLOC1S6 (Q51R +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2744373	NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)	BLOC1S6 (A58fs +1 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 2185742	NM_012388.4(BLOC1S6):c.157G>A (p.Ala53Thr)	BLOC1S6 (A53T +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2197601	NM_012388.4(BLOC1S6):c.171T>C (p.Leu57=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1627875	NM_012388.4(BLOC1S6):c.174T>A (p.Ser58=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 574164	NM_012388.4(BLOC1S6):c.182T>G (p.Leu61Trp)	BLOC1S6 (L61W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 751180	NM_012388.4(BLOC1S6):c.186A>G (p.Pro62=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 858786	NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn)	BLOC1S6 (D63N +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 654571	NM_012388.4(BLOC1S6):c.196A>G (p.Arg66Gly)	BLOC1S6 (R66G +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1116731	NM_012388.4(BLOC1S6):c.198A>G (p.Arg66=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2990226	NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)	BLOC1S6 (K68fs +1 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 827680	NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)	BLOC1S6 (S67* +1 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 9	GPathogenic/Likely pathogenic
Select item 2755965	NM_012388.4(BLOC1S6):c.201A>C (p.Ser67=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 644972	NM_012388.4(BLOC1S6):c.205C>G (p.Gln69Glu)	BLOC1S6 (Q69E +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1308509	NM_012388.4(BLOC1S6):c.210_211dup (p.Leu71fs)	BLOC1S6 (L71fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1596127	NM_012388.4(BLOC1S6):c.210C>T (p.Ala70=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2823501	NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=)	BLOC1S6	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1412020	NM_012388.4(BLOC1S6):c.224C>T (p.Thr75Ile)	BLOC1S6 (T75I +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2828892	NM_012388.4(BLOC1S6):c.224+10T>C	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1654141	NM_012388.4(BLOC1S6):c.224+11A>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2860992	NM_012388.4(BLOC1S6):c.224+15A>C	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2833259	NM_012388.4(BLOC1S6):c.224+17C>T	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1169972	NM_012388.4(BLOC1S6):c.224+17C>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GBenign
Select item 2753980	NM_012388.4(BLOC1S6):c.224+18C>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1588045	NM_012388.4(BLOC1S6):c.224+18C>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1245066	NM_012388.4(BLOC1S6):c.224+48G>T	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244276	NM_012388.4(BLOC1S6):c.224+52C>T	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282882	NM_012388.4(BLOC1S6):c.224+205C>T	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185979	NM_012388.4(BLOC1S6):c.225-260A>G	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950347	NM_012388.4(BLOC1S6):c.225-19C>T	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2861632	NM_012388.4(BLOC1S6):c.225-17G>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2826488	NM_012388.4(BLOC1S6):c.225-16T>C	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1448427	NM_012388.4(BLOC1S6):c.225-14_225-13insA	BLOC1S6	Insertion (intron variant)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1667730	NM_012388.4(BLOC1S6):c.225-13G>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 3021092	NM_012388.4(BLOC1S6):c.225-4dup	BLOC1S6	Duplication (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 30412	NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter)	BLOC1S6 (Q78* +1 more)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 3021739	NM_012388.4(BLOC1S6):c.240A>G (p.Val80=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2828875	NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)	BLOC1S6 (L82* +1 more)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 2815237	NM_012388.4(BLOC1S6):c.249C>T (p.Asp83=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign

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