C3888001[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343688	NM_032383.5(HPS3):c.-70T>C	HPS3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 900556	NM_032383.5(HPS3):c.-50C>T	HPS3	Single nucleotide variant (5 prime UTR variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 343689	NM_032383.5(HPS3):c.-43C>A	HPS3	Single nucleotide variant (5 prime UTR variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 798396	NM_032383.5(HPS3):c.10C>T (p.Leu4=)	HPS3	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 227429	NM_032383.5(HPS3):c.51C>T (p.Pro17=)	HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900557	NM_032383.5(HPS3):c.132C>A (p.Phe44Leu)	HPS3 (F44L)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 343690	NM_032383.5(HPS3):c.158A>G (p.Gln53Arg)	HPS3 (Q53R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 343691	NM_032383.5(HPS3):c.196C>T (p.Arg66Cys)	HPS3 (R66C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902239	NM_032383.5(HPS3):c.323T>C (p.Met108Thr)	HPS3 (M108T)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 902240	NM_032383.5(HPS3):c.338T>G (p.Val113Gly)	HPS3 (V113G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 902241	NM_032383.5(HPS3):c.392C>T (p.Pro131Leu)	HPS3 (P131L)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 902242	NM_032383.5(HPS3):c.398C>T (p.Ser133Leu)	HPS3 (S133L)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 902243	NM_032383.5(HPS3):c.500A>G (p.Asn167Ser)	HPS3 (N167S)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 343692	NM_032383.5(HPS3):c.571G>A (p.Val191Ile)	HPS3 (V191I)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 343693	NM_032383.5(HPS3):c.573T>C (p.Val191=)	HPS3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902244	NM_032383.5(HPS3):c.592G>A (p.Val198Ile)	HPS3 (V198I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 903114	NM_032383.5(HPS3):c.632T>C (p.Leu211Pro)	HPS3 (L211P)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 903115	NM_032383.5(HPS3):c.677A>G (p.His226Arg)	HPS3 (H226R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 903116	NM_032383.5(HPS3):c.694A>G (p.Ile232Val)	HPS3 (I232V)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 903117	NM_032383.5(HPS3):c.700C>T (p.Arg234Trp)	HPS3 (R234W)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 903118	NM_032383.5(HPS3):c.719G>A (p.Ser240Asn)	HPS3 (S75N +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 226655	NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)	HPS3 (E275K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 903119	NM_032383.5(HPS3):c.938A>G (p.His313Arg)	HPS3 (H148R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 903120	NM_032383.5(HPS3):c.963C>T (p.Tyr321=)	HPS3	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 178776	NM_032383.5(HPS3):c.970+7A>G	HPS3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 178777	NM_032383.5(HPS3):c.981A>G (p.Thr327=)	HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 899493	NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys)	HPS3 (Y353C +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 750849	NM_032383.5(HPS3):c.1125G>A (p.Gln375=)	HPS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343700	NM_032383.5(HPS3):c.1136C>T (p.Thr379Met)	HPS3 (T379M +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +2 more	GUncertain significance
Select item 343701	NM_032383.5(HPS3):c.1152C>T (p.His384=)	HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 343702	NM_032383.5(HPS3):c.1153G>A (p.Val385Ile)	HPS3 (V385I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 343703	NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile)	HPS3 (S399I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 900627	NM_032383.5(HPS3):c.1200G>C (p.Ala400=)	HPS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343704	NM_032383.5(HPS3):c.1208C>T (p.Ala403Val)	HPS3 (A403V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 762372	NM_032383.5(HPS3):c.1228A>G (p.Met410Val)	HPS3 (M245V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +1 more	GLikely benign
Select item 900628	NM_032383.5(HPS3):c.1330C>A (p.His444Asn)	HPS3 (H444N +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 343705	NM_032383.5(HPS3):c.1366A>G (p.Ile456Val)	HPS3 (I456V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 765915	NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu)	HPS3 (S303L +1 more)	Single nucleotide variant (missense variant)	HPS3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 178778	NM_032383.5(HPS3):c.1479G>A (p.Thr493=)	HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 163668	NM_032383.5(HPS3):c.1494G>A (p.Gln498=)	HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 902307	NM_032383.5(HPS3):c.1509+5T>C	HPS3	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 343707	NM_032383.5(HPS3):c.1711C>T (p.His571Tyr)	HPS3 (H571Y +1 more)	Single nucleotide variant (missense variant)	HPS3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 343708	NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys)	HPS3 (R590C +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 740601	NM_032383.5(HPS3):c.1773G>A (p.Thr591=)	HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 761877	NM_032383.5(HPS3):c.1785A>G (p.Val595=)	HPS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902308	NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly)	HPS3 (E596G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 902309	NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys)	HPS3 (E603K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 343709	NM_032383.5(HPS3):c.1821C>G (p.Ile607Met)	HPS3 (I607M +1 more)	Single nucleotide variant (missense variant)	HPS3-related condition +2 more	GLikely benign
Select item 226653	NM_032383.5(HPS3):c.2055G>A (p.Leu685=)	HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 976638	NM_032383.5(HPS3):c.2078A>G (p.His693Arg)	HPS3 (H693R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 343710	NM_032383.5(HPS3):c.2124C>T (p.Gly708=)	HPS3	Single nucleotide variant (synonymous variant)	HPS3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 763839	NM_032383.5(HPS3):c.2196C>T (p.His732=)	HPS3	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 3 +1 more	GBenign
Select item 226654	NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)	HPS3 (G739R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 343711	NM_032383.5(HPS3):c.2224G>A (p.Val742Met)	HPS3 (V742M +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 723417	NM_032383.5(HPS3):c.2378T>C (p.Val793Ala)	CP, HPS3 (V628A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 728608	NM_032383.5(HPS3):c.2469A>G (p.Thr823=)	CP, HPS3	Single nucleotide variant (non-coding transcript variant +1 more)	HPS3-related condition +2 more	GBenign/Likely benign
Select item 163669	NM_032383.5(HPS3):c.2526C>T (p.His842=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 756752	NM_032383.5(HPS3):c.2527G>A (p.Val843Ile)	CP, HPS3 (V678I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 343712	NM_032383.5(HPS3):c.2658C>T (p.Asp886=)	CP, HPS3	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 343713	NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys)	CP, HPS3 (R898C +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +1 more	GLikely benign
Select item 343714	NM_032383.5(HPS3):c.2699G>A (p.Arg900His)	CP, HPS3 (R900H +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 899561	NM_032383.5(HPS3):c.2887+8G>T	HPS3, CP	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 899562	NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)	CP, HPS3 (N979S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +2 more	GUncertain significance
Select item 899563	NM_032383.5(HPS3):c.*95A>C	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 343716	NM_032383.5(HPS3):c.*96T>A	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 900701	NM_032383.5(HPS3):c.*98A>T	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 343731	NM_032383.5(HPS3):c.*128A>G	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 343732	NM_032383.5(HPS3):c.*135T>C	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 900702	NM_032383.5(HPS3):c.*138A>T	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 343733	NM_032383.5(HPS3):c.*170C>T	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 343734	NM_032383.5(HPS3):c.*172G>A	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 900703	NM_032383.5(HPS3):c.*207C>T	HPS3, CP	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 343735	NM_032383.5(HPS3):c.*239G>A	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3	GUncertain significance
Select item 343736	NM_000096.4(CP):c.*1157C>T	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GBenign/Likely benign
Select item 343737	NM_000096.4(CP):c.*1081T>A	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 902379	NM_000096.4(CP):c.*1007T>A	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 343738	NM_000096.4(CP):c.*912C>G	HPS3, CP	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 343739	NM_000096.4(CP):c.*879A>C	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GLikely benign
Select item 343742	NM_000096.4(CP):c.*769G>A	HPS3, CP	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GBenign
Select item 343743	NM_000096.4(CP):c.*768T>C	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GBenign/Likely benign
Select item 343744	NM_000096.4(CP):c.*583T>C	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome +2 more	GUncertain significance
Select item 343745	NM_000096.4(CP):c.*572A>G	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 899640	NM_000096.4(CP):c.*536G>C	HPS3, CP	Single nucleotide variant (3 prime UTR variant)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 343746	NM_000096.4(CP):c.*509A>C	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 899641	NM_000096.4(CP):c.*474T>C	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Deficiency of ferroxidase +2 more	GBenign/Likely benign
Select item 900780	NM_000096.4(CP):c.*373C>T	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 343747	NM_000096.4(CP):c.*373C>G	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 343748	NM_000096.4(CP):c.*343A>G	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 900781	NM_000096.4(CP):c.*259C>T	HPS3, CP	Single nucleotide variant (3 prime UTR variant)	Deficiency of ferroxidase +1 more	GLikely benign

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Items: 89