"GeneDx"[submitter] AND "HPS3"[gene] - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	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 343688	NM_032383.5(HPS3):c.-70T>C	HPS3	Single nucleotide variant (5 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GBenign/Likely benign
Select item 1241856	NM_032383.5(HPS3):c.217+132C>T	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278333	NM_032383.5(HPS3):c.217+207G>T	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261210	NM_032383.5(HPS3):c.217+240C>A	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293930	NM_032383.5(HPS3):c.218-101C>T	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230695	NM_032383.5(HPS3):c.218-77A>C	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1273245	NM_032383.5(HPS3):c.713-242A>C	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168923	NM_032383.5(HPS3):c.884+23_884+25dup	HPS3	Duplication (intron variant)	not provided	GBenign
Select item 343698	NM_032383.5(HPS3):c.884+21_884+25dup	HPS3	Duplication (intron variant)	Hermansky-Pudlak syndrome +1 more	GConflicting classifications of pathogenicity
Select item 343697	NM_032383.5(HPS3):c.884+22_884+25dup	HPS3	Duplication (intron variant)	Hermansky-Pudlak syndrome +1 more	GConflicting classifications of pathogenicity
Select item 343696	NM_032383.5(HPS3):c.884+24_884+25dup	HPS3	Duplication (intron variant)	Hermansky-Pudlak syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1289723	NM_032383.5(HPS3):c.970+150dup	HPS3	Duplication (intron variant)	not provided	GBenign
Select item 1707188	NM_032383.5(HPS3):c.970+172dup	HPS3	Duplication (intron variant)	not provided	GLikely benign
Select item 1190907	NM_032383.5(HPS3):c.970+151G>T	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245408	NM_032383.5(HPS3):c.970+171_970+172del	HPS3	Deletion (intron variant)	not provided	GBenign
Select item 1179986	NM_032383.5(HPS3):c.970+172del	HPS3	Deletion (intron variant)	not provided	GBenign
Select item 1188525	NM_032383.5(HPS3):c.970+159T>G	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269183	NM_032383.5(HPS3):c.970+161T>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235791	NM_032383.5(HPS3):c.970+162T>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207969	NM_032383.5(HPS3):c.970+164T>G	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226163	NM_032383.5(HPS3):c.970+165T>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260035	NM_032383.5(HPS3):c.970+279G>A	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273489	NM_032383.5(HPS3):c.971-285C>A	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249748	NM_032383.5(HPS3):c.971-43T>C	HPS3	Single nucleotide variant (intron variant)	not provided	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 1407305	NM_032383.5(HPS3):c.1022G>A (p.Ser341Asn)	HPS3 (S341N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185216	NM_032383.5(HPS3):c.1163+62T>G	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1291638	NM_032383.5(HPS3):c.1163+251A>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290689	NM_032383.5(HPS3):c.1163+258A>C	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241960	NM_032383.5(HPS3):c.1164-225C>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261228	NM_032383.5(HPS3):c.1164-192A>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185217	NM_032383.5(HPS3):c.1164-139A>C	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1216122	NM_032383.5(HPS3):c.1164-107G>A	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236841	NM_032383.5(HPS3):c.1164-91del	HPS3	Deletion (intron variant)	not provided	GBenign
Select item 262023	NM_032383.5(HPS3):c.1164-25C>T	HPS3	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3 +2 more	GBenign
Select item 4613	NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	HPS3 (R397W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1257577	NM_032383.5(HPS3):c.1245+59C>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218549	NM_032383.5(HPS3):c.1245+87A>G	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183735	NM_032383.5(HPS3):c.1245+112T>C	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244162	NM_032383.5(HPS3):c.1245+231C>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273670	NM_032383.5(HPS3):c.1246-215A>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232696	NM_032383.5(HPS3):c.1246-157C>T	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372594	NM_032383.5(HPS3):c.1274G>A (p.Cys425Tyr)	HPS3 (C260Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267441	NM_032383.5(HPS3):c.1400+41G>A	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230711	NM_032383.5(HPS3):c.1400+97A>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240983	NM_032383.5(HPS3):c.1400+244T>C	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178015	NM_032383.5(HPS3):c.1401-103T>A	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	Hermansky-Pudlak syndrome 3 +2 more	GBenign
Select item 662551	NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs)	HPS3 (C396fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 1185218	NM_032383.5(HPS3):c.1692-192T>G	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 812964	NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)	HPS3 (E459* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1239569	NM_032383.5(HPS3):c.1873-153T>C	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257441	NM_032383.5(HPS3):c.2106+177A>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250638	NM_032383.5(HPS3):c.2107-176A>G	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185219	NM_032383.5(HPS3):c.2107-57A>G	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185220	NM_032383.5(HPS3):c.2107-52A>G	HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1205047	NM_032383.5(HPS3):c.2292+39C>T	HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259939	NM_032383.5(HPS3):c.2292+63C>A	HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268637	NM_032383.5(HPS3):c.2292+111_2292+112del	CP, HPS3	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1287393	NM_032383.5(HPS3):c.2482-29T>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 163669	NM_032383.5(HPS3):c.2526C>T (p.His842=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2147543	NM_032383.5(HPS3):c.2546C>T (p.Ser849Phe)	CP, HPS3 (S684F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272322	NM_032383.5(HPS3):c.2796+39G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262024	NM_032383.5(HPS3):c.2796+50C>T	CP, HPS3	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3 +2 more	GBenign
Select item 1241005	NM_032383.5(HPS3):c.2796+207_2796+209del	HPS3, CP	Microsatellite (intron variant)	not provided	GBenign
Select item 2676080	NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)	CP, HPS3 (Y792* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343715	NM_032383.5(HPS3):c.2887+19dup	CP, HPS3	Duplication (intron variant)	Deficiency of ferroxidase +3 more	GBenign
Select item 1185221	NM_032383.5(HPS3):c.2887+81G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1187229	NM_032383.5(HPS3):c.2887+247A>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263670	NM_032383.5(HPS3):c.2888-1878T>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226894	NM_032383.5(HPS3):c.2888-241G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177970	NM_032383.5(HPS3):c.2888-55A>T	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707212	NM_032383.5(HPS3):c.2888-42G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 343724	NM_032383.5(HPS3):c.97_98insTCACACAC	CP, HPS3	Insertion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343721	NM_032383.5(HPS3):c.*97CA[23]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343720	NM_032383.5(HPS3):c.*97CA[22]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343719	NM_032383.5(HPS3):c.*97CA[21]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343718	NM_032383.5(HPS3):c.*97CA[20]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1286321	NM_032383.5(HPS3):c.*97CA[18]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 343731	NM_032383.5(HPS3):c.*128A>G	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Deficiency of ferroxidase +2 more	GBenign/Likely benign
Select item 343733	NM_032383.5(HPS3):c.*170C>T	HPS3, CP	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GLikely benign
Select item 343734	NM_032383.5(HPS3):c.*172G>A	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Deficiency of ferroxidase +2 more	GBenign/Likely benign
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)	Hermansky-Pudlak syndrome 3 +2 more	GBenign/Likely benign
Select item 343749	NM_000096.4(CP):c.*137C>T	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome +2 more	GLikely benign
Select item 128842	NM_000096.4(CP):c.3182-4A>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 128841	NM_000096.4(CP):c.2991T>C (p.His997=)	CP, HPS3	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 95