ClinVar for MedGen (Select 481656) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 159

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023458	NM_012388.4(BLOC1S6):c.82+9_82+12del	BLOC1S6	Deletion (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
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 3021092	NM_012388.4(BLOC1S6):c.225-4dup	BLOC1S6	Duplication (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 3011276	NM_012388.4(BLOC1S6):c.408A>G (p.Ala136=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 3009563	NM_012388.4(BLOC1S6):c.312+7A>G	BLOC1S6	Single nucleotide variant (intron variant)	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 2965045	NM_012388.4(BLOC1S6):c.253C>T (p.Leu85=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2909721	NM_012388.4(BLOC1S6):c.507C>T (p.Ala169=)	BLOC1S6	Single nucleotide variant (3 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2901958	NM_012388.4(BLOC1S6):c.400-5C>T	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2877383	NM_012388.4(BLOC1S6):c.399+13T>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
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 2861632	NM_012388.4(BLOC1S6):c.225-17G>A	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 2858261	NM_012388.4(BLOC1S6):c.309T>C (p.Ala103=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2845909	NM_012388.4(BLOC1S6):c.384A>G (p.Lys128=)	BLOC1S6	Single nucleotide variant (3 prime UTR variant +2 more)	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 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 2828892	NM_012388.4(BLOC1S6):c.224+10T>C	BLOC1S6	Single nucleotide variant (intron variant)	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 2828478	NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)	BLOC1S6 (A12fs)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 9	GPathogenic
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 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 2815237	NM_012388.4(BLOC1S6):c.249C>T (p.Asp83=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 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 2799775	NM_012388.4(BLOC1S6):c.367C>T (p.Leu123=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2796397	NM_012388.4(BLOC1S6):c.400-16T>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2792822	NM_012388.4(BLOC1S6):c.313-7T>C	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
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 2790847	NM_012388.4(BLOC1S6):c.43C>A (p.Arg15=)	BLOC1S6	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2790327	NM_012388.4(BLOC1S6):c.417G>A (p.Leu139=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2790319	NM_012388.4(BLOC1S6):c.400-7A>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely 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 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 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 2764274	NM_012388.4(BLOC1S6):c.312+17T>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2756101	NM_012388.4(BLOC1S6):c.399+10A>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
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 2753980	NM_012388.4(BLOC1S6):c.224+18C>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2750847	NM_012388.4(BLOC1S6):c.359_360del (p.Lys120fs)	BLOC1S6 (K120fs +1 more)	Deletion (frameshift variant +2 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2748432	NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)	BLOC1S6 (L104* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 2747333	NM_012388.4(BLOC1S6):c.399+18dup	BLOC1S6	Duplication (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
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 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 2726839	NM_012388.4(BLOC1S6):c.255G>A (p.Leu85=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2719871	NM_012388.4(BLOC1S6):c.313-1G>A	BLOC1S6	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 9	GLikely pathogenic
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 2708479	NM_012388.4(BLOC1S6):c.82+1_82+8del	BLOC1S6	Deletion (splice donor variant)	Hermansky-Pudlak syndrome 9	GLikely pathogenic
Select item 2707543	NM_012388.4(BLOC1S6):c.400-6A>C	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2693307	NM_012388.4(BLOC1S6):c.313-11dup	BLOC1S6	Duplication (intron variant)	Hermansky-Pudlak syndrome 9	GBenign
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 2425801	NC_000015.9:g.(?_45879642)_(45898712_?)dup	BLOC1S6	Duplication	Hermansky-Pudlak syndrome 9	GUncertain significance
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 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 2191338	NM_012388.4(BLOC1S6):c.400-8del	BLOC1S6	Deletion (intron variant)	Hermansky-Pudlak syndrome 9	GBenign
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 2184106	NM_012388.4(BLOC1S6):c.82+4C>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2170844	NM_012388.4(BLOC1S6):c.382A>C (p.Lys128Gln)	BLOC1S6 (K128Q +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 2153244	NM_012388.4(BLOC1S6):c.400-17T>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 2146850	NM_012388.4(BLOC1S6):c.468G>A (p.Lys156=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
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 2109595	NM_012388.4(BLOC1S6):c.400-13T>C	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
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 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 2063836	NM_012388.4(BLOC1S6):c.452A>T (p.Glu151Val)	BLOC1S6 (E156V +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
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 2041868	NM_012388.4(BLOC1S6):c.82+14G>T	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
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 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 1977152	NM_012388.4(BLOC1S6):c.39G>A (p.Leu13=)	BLOC1S6	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely benign
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 1950347	NM_012388.4(BLOC1S6):c.225-19C>T	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1947585	NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)	BLOC1S6 (E88fs +1 more)	Duplication (frameshift variant +2 more)	Hermansky-Pudlak syndrome 9	GPathogenic
Select item 1933969	NM_012388.4(BLOC1S6):c.312+1G>T	BLOC1S6	Single nucleotide variant (splice donor variant +1 more)	Hermansky-Pudlak syndrome 9	GLikely pathogenic
Select item 1931030	NM_012388.4(BLOC1S6):c.332A>G (p.Tyr111Cys)	BLOC1S6 (I87V +2 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
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 1905917	NM_012388.4(BLOC1S6):c.503C>T (p.Pro168Leu)	BLOC1S6 (P168L +1 more)	Single nucleotide variant (3 prime UTR variant +2 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 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 1667730	NM_012388.4(BLOC1S6):c.225-13G>A	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1654879	NM_012388.4(BLOC1S6):c.282A>G (p.Glu94=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	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 1640030	NM_012388.4(BLOC1S6):c.408A>T (p.Ala136=)	BLOC1S6	Single nucleotide variant (non-coding transcript variant +2 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 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 1589408	NM_012388.4(BLOC1S6):c.36C>T (p.Ala12=)	BLOC1S6	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 1584519	NM_012388.4(BLOC1S6):c.400-6dup	BLOC1S6	Duplication (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1555983	NM_012388.4(BLOC1S6):c.399+14T>G	BLOC1S6	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1554646	NM_012388.4(BLOC1S6):c.387A>G (p.Thr129=)	BLOC1S6	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 9	GLikely benign
Select item 1515328	NM_012388.4(BLOC1S6):c.350A>T (p.Asn117Ile)	BLOC1S6 (N122I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
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	GUncertain significance
Select item 1513586	NM_012388.4(BLOC1S6):c.289T>C (p.Ser97Pro)	BLOC1S6 (S97P +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1504215	NM_012388.4(BLOC1S6):c.358A>C (p.Lys120Gln)	BLOC1S6 (K125Q +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1450432	NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln)	BLOC1S6 (R159Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1448427	NM_012388.4(BLOC1S6):c.225-14_225-13insA	BLOC1S6	Insertion (intron variant)	Hermansky-Pudlak syndrome 9	GUncertain significance
Select item 1444501	NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)	BLOC1S6 (Y111fs +2 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome +2 more	GConflicting classifications of pathogenicity
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 1415434	NM_012388.4(BLOC1S6):c.269C>T (p.Ser90Leu)	BLOC1S6 (S90L +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 9	GUncertain significance
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

<< First< Prev

Page of 2