HPS3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937661, LOC129937662 +320 more	Copy number loss	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 4608	NM_032383.5(HPS3):c.0_217+692del	HPS3	Deletion	Hermansky-Pudlak syndrome 3	GPathogenic
Select item 1215333	NC_000003.12:g.149129418C>T	HPS3	Single nucleotide variant	not provided	GLikely benign
Select item 1268994	NC_000003.12:g.149129436G>A	HPS3	Single nucleotide variant	not provided	GBenign
Select item 1234361	NC_000003.12:g.149129521G>C	HPS3	Single nucleotide variant	not provided	GBenign
Select item 343687	NM_032383.4(HPS3):c.-108C>T	HPS3	Single nucleotide variant	Hermansky-Pudlak syndrome	GUncertain significance
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 660678	NC_000003.12:g.(?_149129714)_(149129950_?)del	HPS3	Deletion	not provided	GPathogenic
Select item 1911072	NM_032383.5(HPS3):c.1A>C (p.Met1Leu)	HPS3 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916243	NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)	HPS3 (Q3*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic
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 1619998	NM_032383.5(HPS3):c.12G>C (p.Leu4=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627248	NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)	HPS3 (Y5*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1616190	NM_032383.5(HPS3):c.18C>T (p.Asn6=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986763	NM_032383.5(HPS3):c.19C>T (p.Leu7=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793742	NM_032383.5(HPS3):c.21G>T (p.Leu7=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546418	NM_032383.5(HPS3):c.21G>A (p.Leu7=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1097787	NM_032383.5(HPS3):c.24C>T (p.His8=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1073245	NM_032383.5(HPS3):c.26del (p.Pro9fs)	HPS3 (P9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1126644	NM_032383.5(HPS3):c.27G>A (p.Pro9=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1115698	NM_032383.5(HPS3):c.27G>C (p.Pro9=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002780	NM_032383.5(HPS3):c.30C>T (p.Phe10=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114059	NM_032383.5(HPS3):c.33G>C (p.Gly11=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424991	NM_032383.5(HPS3):c.35C>A (p.Ser12Ter)	HPS3 (S12*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1549440	NM_032383.5(HPS3):c.36G>A (p.Ser12=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164388	NM_032383.5(HPS3):c.38_39delinsCC (p.Gln13Pro)	HPS3 (Q13P)	Indel (missense variant)	not provided	GUncertain significance
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 2762218	NM_032383.5(HPS3):c.54C>T (p.Cys18=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817599	NM_032383.5(HPS3):c.58C>T (p.Leu20=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117693	NM_032383.5(HPS3):c.63G>A (p.Glu21=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958483	NM_032383.5(HPS3):c.66G>C (p.Pro22=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618422	NM_032383.5(HPS3):c.66G>A (p.Pro22=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531574	NM_032383.5(HPS3):c.69C>T (p.Asp23=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971166	NM_032383.5(HPS3):c.70C>T (p.Arg24Trp)	HPS3 (R24W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963998	NM_032383.5(HPS3):c.70C>A (p.Arg24=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654114	NM_032383.5(HPS3):c.75C>T (p.Phe25=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2036576	NM_032383.5(HPS3):c.84_109del (p.Arg30fs)	HPS3 (R30fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2971447	NM_032383.5(HPS3):c.87dup (p.Arg30fs)	HPS3 (R30fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2676075	NM_032383.5(HPS3):c.87del (p.Arg30fs)	HPS3 (R30fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 1652838	NM_032383.5(HPS3):c.84G>A (p.Gly28=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 556558	NM_032383.5(HPS3):c.89_114del (p.Arg30fs)	HPS3 (R30fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2126149	NM_032383.5(HPS3):c.87G>A (p.Gly29=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2234044	NM_032383.5(HPS3):c.89G>A (p.Arg30His)	HPS3 (R30H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1146172	NM_032383.5(HPS3):c.93C>T (p.Asp31=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545130	NM_032383.5(HPS3):c.96G>C (p.Ala32=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700312	NM_032383.5(HPS3):c.108G>A (p.Ala36=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997674	NM_032383.5(HPS3):c.111G>T (p.Ala37=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094432	NM_032383.5(HPS3):c.114C>T (p.Gly38=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748656	NM_032383.5(HPS3):c.117_124dup (p.Glu42fs)	HPS3 (E42fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1971545	NM_032383.5(HPS3):c.119dup (p.Val41fs)	HPS3 (V41fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2781009	NM_032383.5(HPS3):c.120G>A (p.Lys40=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682521	NM_032383.5(HPS3):c.121G>A (p.Val41Met)	HPS3 (V41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1674890	NM_032383.5(HPS3):c.123G>A (p.Val41=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 626984	NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)	HPS3 (E42*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 435452	NM_032383.5(HPS3):c.124G>C (p.Glu42Gln)	HPS3 (E42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1372195	NM_032383.5(HPS3):c.128C>A (p.Ala43Glu)	HPS3 (A43E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030086	NM_032383.5(HPS3):c.132C>T (p.Phe44=)	HPS3	Single nucleotide variant (synonymous variant)	HPS3-related condition	GLikely benign
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 1552899	NM_032383.5(HPS3):c.135G>T (p.Ala45=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150778	NM_032383.5(HPS3):c.135G>A (p.Ala45=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751264	NM_032383.5(HPS3):c.135G>C (p.Ala45=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582218	NM_032383.5(HPS3):c.141C>T (p.Ala47=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1078838	NM_032383.5(HPS3):c.141C>G (p.Ala47=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2676073	NM_032383.5(HPS3):c.145C>T (p.Gln49Ter)	HPS3 (Q49*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2022446	NM_032383.5(HPS3):c.148G>T (p.Glu50Ter)	HPS3 (E50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1346125	NM_032383.5(HPS3):c.150G>T (p.Glu50Asp)	HPS3 (E50D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2676067	NM_032383.5(HPS3):c.157del (p.Gln53fs)	HPS3 (Q53fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
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 2790473	NM_032383.5(HPS3):c.159G>A (p.Gln53=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049263	NM_032383.5(HPS3):c.159G>T (p.Gln53His)	HPS3 (Q53H)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 1438991	NM_032383.5(HPS3):c.161C>T (p.Pro54Leu)	HPS3 (P54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026745	NM_032383.5(HPS3):c.162G>T (p.Pro54=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004269	NM_032383.5(HPS3):c.165G>A (p.Arg55=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846259	NM_032383.5(HPS3):c.171C>A (p.Ala57=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618603	NM_032383.5(HPS3):c.171C>T (p.Ala57=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852496	NM_032383.5(HPS3):c.174C>T (p.Phe58=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009918	NM_032383.5(HPS3):c.177C>T (p.Ser59=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710867	NM_032383.5(HPS3):c.177C>A (p.Ser59=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1068938	NM_032383.5(HPS3):c.182_198del (p.Leu61fs)	HPS3 (L61fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2881249	NM_032383.5(HPS3):c.180G>C (p.Thr60=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556021	NM_032383.5(HPS3):c.180G>T (p.Thr60=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484008	NM_032383.5(HPS3):c.182T>C (p.Leu61Pro)	HPS3 (L61P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2785994	NM_032383.5(HPS3):c.187C>A (p.Arg63=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660526	NM_032383.5(HPS3):c.189G>A (p.Arg63=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547943	NM_032383.5(HPS3):c.190G>T (p.Val64Leu)	HPS3 (V64L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1452983	NM_032383.5(HPS3):c.198_211del (p.Leu67fs)	HPS3 (L67fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 765976	NM_032383.5(HPS3):c.199C>T (p.Leu67=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1070801	NM_032383.5(HPS3):c.202_203insTGTTA (p.Ala68fs)	HPS3 (A68fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1118818	NM_032383.5(HPS3):c.204C>T (p.Ala68=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823843	NM_032383.5(HPS3):c.207C>T (p.Tyr69=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2676102	NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter)	HPS3 (Y69*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 3	GLikely pathogenic
Select item 2891217	NM_032383.5(HPS3):c.210C>T (p.Ser70=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988227	NM_032383.5(HPS3):c.216T>A (p.Ala72=)	HPS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1523884	NM_032383.5(HPS3):c.217+2T>G	HPS3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic

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