ClinVar for MedGen (Select 854714) - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064168	NM_024747.6(HPS6):c.877C>T (p.Gln293Ter)	HPS6 (Q293*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 6	GLikely pathogenic
Select item 2664862	NM_024747.6(HPS6):c.1274A>T (p.Glu425Val)	HPS6 (E425V)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 2664760	NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)	HPS6 (P423S)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 2582768	NM_024747.6(HPS6):c.1241G>A (p.Arg414Gln)	HPS6 (R414Q)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 2440763	NM_024747.6(HPS6):c.1789del (p.Ala597fs)	HPS6 (A597fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 6	GLikely pathogenic
Select item 2440755	NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter)	HPS6 (S379*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 6	GLikely pathogenic
Select item 2136928	NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter)	HPS6 (Q505*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 6 +1 more	GPathogenic/Likely pathogenic
Select item 1691238	NM_024747.6(HPS6):c.1228_1252del (p.Tyr410fs)	HPS6 (Y410fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1524471	NM_024747.6(HPS6):c.2260C>G (p.Leu754Val)	HPS6 (L754V)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +1 more	GUncertain significance
Select item 1492752	NM_024747.6(HPS6):c.370G>T (p.Gly124Trp)	HPS6 (G124W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1492067	NM_024747.6(HPS6):c.7C>T (p.Arg3Cys)	HPS6, LOC130004578 (R3C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455209	NM_024747.6(HPS6):c.1819C>T (p.Arg607Ter)	HPS6 (R607*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 6 +1 more	GPathogenic/Likely pathogenic
Select item 1443600	NM_024747.6(HPS6):c.466_475dup (p.Phe159fs)	HPS6 (F159fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1438468	NM_024747.6(HPS6):c.1417G>A (p.Val473Met)	HPS6 (V473M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1369793	NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys)	HPS6 (R682C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1327494	NM_024747.6(HPS6):c.1066_1067insG (p.Leu356fs)	HPS6 (L356fs)	Insertion (frameshift variant)	Hermansky-Pudlak syndrome 6	Gnot provided
Select item 1323067	NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter)	HPS6 (Q471*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 6	GPathogenic
Select item 1210214	NM_024747.6(HPS6):c.1030G>T (p.Glu344Ter)	HPS6 (E344*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1050563	NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)	HPS6, LOC130004578 (W71fs)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 6	GLikely pathogenic
Select item 1029921	NM_024747.6(HPS6):c.1360A>G (p.Met454Val)	HPS6 (M454V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 996367	NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter)	HPS6 (R578*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 996366	NM_024747.6(HPS6):c.335G>A (p.Trp112Ter)	HPS6 (W112*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 996365	NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter)	HPS6 (R667*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 880438	NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp)	HPS6 (R651W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880437	NM_024747.6(HPS6):c.1810C>G (p.Leu604Val)	HPS6 (L604V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880436	NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp)	HPS6 (E585D)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +2 more	GUncertain significance
Select item 880435	NM_024747.6(HPS6):c.1692C>A (p.Pro564=)	HPS6	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 880434	NM_024747.6(HPS6):c.1679G>T (p.Gly560Val)	HPS6 (G560V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880396	NM_024747.6(HPS6):c.277G>T (p.Val93Leu)	HPS6, LOC130004578 (V93L)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 880395	NM_024747.6(HPS6):c.-5G>A	HPS6, LOC130004578	Single nucleotide variant (5 prime UTR variant)	HPS6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 879250	NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala)	HPS6 (D477A)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 879249	NM_024747.6(HPS6):c.1363T>C (p.Leu455=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879248	NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys)	HPS6 (S449C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 879247	NM_024747.6(HPS6):c.1253G>T (p.Gly418Val)	HPS6 (G418V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879246	NM_024747.6(HPS6):c.1152T>C (p.Phe384=)	HPS6	Single nucleotide variant (synonymous variant)	HPS6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 878698	NM_024747.6(HPS6):c.2323C>G (p.Leu775Val)	HPS6 (L775V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 878650	NM_024747.6(HPS6):c.1127G>A (p.Arg376His)	HPS6 (R376H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 878649	NM_024747.6(HPS6):c.1035G>A (p.Arg345=)	HPS6	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 878648	NM_024747.6(HPS6):c.831C>G (p.Pro277=)	HPS6	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 878647	NM_024747.6(HPS6):c.732A>G (p.Gly244=)	HPS6	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 877680	NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr)	HPS6 (P752T)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 877679	NM_024747.6(HPS6):c.2166C>T (p.Phe722=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877678	NM_024747.6(HPS6):c.2112C>T (p.Leu704=)	HPS6	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 877677	NM_024747.6(HPS6):c.2045G>A (p.Arg682His)	HPS6 (R682H)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +1 more	GUncertain significance
Select item 877676	NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)	HPS6 (E677K)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 877636	NM_024747.6(HPS6):c.634G>A (p.Val212Met)	HPS6 (V212M)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +1 more	GUncertain significance
Select item 877635	NM_024747.6(HPS6):c.303C>T (p.Ala101=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 812730	NM_024747.6(HPS6):c.1A>G (p.Met1Val)	HPS6, LOC130004578 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 740138	NM_024747.6(HPS6):c.1692C>T (p.Pro564=)	HPS6	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6 +1 more	GBenign/Likely benign
Select item 627122	NM_024747.6(HPS6):c.692C>G (p.Pro231Arg)	HPS6 (P231R)	Single nucleotide variant (missense variant)	Storage pool disease of platelets +3 more	GUncertain significance
Select item 623366	NM_024747.6(HPS6):c.19_20del (p.Leu7fs)	HPS6, LOC130004578 (L7fs)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome 6	GLikely pathogenic
Select item 502686	NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)	HPS6 (H354Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 435465	NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter)	HPS6 (C571*)	Insertion (nonsense)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 435464	NM_024747.6(HPS6):c.1693T>G (p.Phe565Val)	HPS6 (F565V)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GLikely pathogenic
Select item 435463	NM_024747.6(HPS6):c.254C>T (p.Pro85Leu)	HPS6, LOC130004578 (P85L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 435461	NM_024747.6(HPS6):c.541A>G (p.Thr181Ala)	HPS6 (T181A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 431051	NM_024747.6(HPS6):c.2038C>T (p.Gln680Ter)	HPS6 (Q680*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 431050	NM_024747.6(HPS6):c.1898del (p.Pro633fs)	HPS6 (P633fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 6	GPathogenic
Select item 298562	NM_024747.6(HPS6):c.2307G>A (p.Pro769=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298561	NM_024747.6(HPS6):c.2231G>T (p.Gly744Val)	HPS6 (G744V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 298560	NM_024747.6(HPS6):c.2181A>G (p.Ala727=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298559	NM_024747.6(HPS6):c.1606A>G (p.Arg536Gly)	HPS6 (R536G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 298558	NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn)	HPS6 (D401N)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 298557	NM_024747.6(HPS6):c.1181T>C (p.Val394Ala)	HPS6 (V394A)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 298556	NM_024747.6(HPS6):c.1039G>A (p.Val347Ile)	HPS6 (V347I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298555	NM_024747.6(HPS6):c.727C>A (p.Pro243Thr)	HPS6 (P243T)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +1 more	GUncertain significance
Select item 298554	NM_024747.6(HPS6):c.398C>T (p.Ala133Val)	HPS6 (A133V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 298553	NM_024747.6(HPS6):c.298C>T (p.Leu100=)	HPS6	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 298552	NM_024747.6(HPS6):c.194C>G (p.Ala65Gly)	HPS6, LOC130004578 (A65G)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 298551	NM_024747.6(HPS6):c.138G>A (p.Leu46=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 298550	NM_024747.6(HPS6):c.112C>G (p.Pro38Ala)	HPS6, LOC130004578 (P38A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286495	NM_024747.6(HPS6):c.105T>C (p.Arg35=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	HPS6-related condition +3 more	GBenign/Likely benign
Select item 284200	NM_024747.6(HPS6):c.444C>G (p.Ala148=)	HPS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 282566	NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)	HPS6 (R113W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 282222	NM_024747.6(HPS6):c.1779G>A (p.Pro593=)	HPS6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 261765	NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)	HPS6 (G211A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 261763	NM_024747.6(HPS6):c.1764G>A (p.Gln588=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 261761	NM_024747.6(HPS6):c.*178T>G	HPS6	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 211155	NM_024747.6(HPS6):c.698T>G (p.Leu233Arg)	HPS6 (L233R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 208586	NM_024747.6(HPS6):c.238dup (p.Asp80fs)	HPS6, LOC130004578 (D80fs)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GConflicting classifications of pathogenicity
Select item 163683	NM_024747.6(HPS6):c.516G>A (p.Gly172=)	HPS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 163680	NM_024747.6(HPS6):c.99A>G (p.Arg33=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 40972	nsv1067844		Deletion	Hermansky-Pudlak syndrome 6	GPathogenic
Select item 30677	NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter)	HPS6 (Q412*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 30676	NM_024747.6(HPS6):c.223C>T (p.Gln75Ter)	HPS6, LOC130004578 (Q75*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 30675	NM_024747.6(HPS6):c.815C>T (p.Thr272Ile)	HPS6 (T272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30673	NM_024747.6(HPS6):c.913C>T (p.Gln305Ter)	HPS6 (Q305*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 30672	NM_024747.6(HPS6):c.1865_1866del (p.Leu622fs)	HPS6 (L622fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 30671	NM_024747.6(HPS6):c.1065dup (p.Leu356fs)	HPS6 (L356fs)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 6	GPathogenic
Select item 3151	NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs)	HPS6 (L572fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 6	GPathogenic

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Items: 90