"GeneDx"[submitter] AND "HPS5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 303861	NM_181507.2(HPS5):c.*300T>C	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5 +1 more	GBenign
Select item 303862	NM_181507.2(HPS5):c.*299C>T	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5 +1 more	GBenign
Select item 1226264	NM_181507.2(HPS5):c.3330-116A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281903	NM_181507.2(HPS5):c.3329+93G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 21821	NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)	HPS5 (T1098I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5 +2 more	GBenign/Likely benign
Select item 707875	NM_181507.2(HPS5):c.3217A>G (p.Met1073Val)	HPS5 (M1073V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1287221	NM_181507.2(HPS5):c.3059-223dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 163676	NM_181507.2(HPS5):c.3058+9A>G	HPS5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 280536	NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)	HPS5 (C879fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1287660	NM_181507.2(HPS5):c.2952-309C>G	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183186	NM_181507.2(HPS5):c.2951+188dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 1216877	NM_181507.2(HPS5):c.2951+203del	HPS5	Deletion (intron variant)	not provided	GLikely benign
Select item 1244626	NM_181507.2(HPS5):c.2838-39A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707227	NM_181507.2(HPS5):c.2838-139T>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286247	NM_181507.2(HPS5):c.2837+98C>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257629	NM_181507.2(HPS5):c.2837+57G>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221639	NM_181507.2(HPS5):c.2837+39dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 1244798	NM_181507.2(HPS5):c.2837+44T>G	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267559	NM_181507.2(HPS5):c.2718-211dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 303874	NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu)	HPS5 (P846L +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5 +2 more	GBenign/Likely benign
Select item 1260280	NM_181507.2(HPS5):c.2441-140T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263369	NM_181507.2(HPS5):c.2441-157_2441-155del	HPS5	Deletion (intron variant)	not provided	GBenign
Select item 1239093	NM_181507.2(HPS5):c.2440+51T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262985	NM_181507.2(HPS5):c.2440+36C>T	HPS5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 730592	NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn)	HPS5 (S687N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1878862	NM_181507.2(HPS5):c.2142G>C (p.Arg714Ser)	HPS5 (R600S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351770	NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser)	HPS5 (L533S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1190372	NM_181507.2(HPS5):c.1871T>C (p.Leu624Pro)	HPS5 (L510P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264805	NM_181507.2(HPS5):c.1863-171A>C	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270064	NM_181507.2(HPS5):c.1863-191del	HPS5	Deletion (intron variant)	not provided	GBenign
Select item 1181827	NM_181507.2(HPS5):c.1862+87C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262984	NM_181507.2(HPS5):c.1862+17A>C	HPS5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 879740	NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)	HPS5 (S488N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 226662	NM_181507.2(HPS5):c.1785-13C>T	HPS5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1245634	NM_181507.2(HPS5):c.1785-63_1785-62dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 1283083	NM_181507.2(HPS5):c.1785-229del	HPS5	Deletion (intron variant)	not provided	GBenign
Select item 1230241	NM_181507.2(HPS5):c.1784+318A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182628	NM_181507.2(HPS5):c.1784+254G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237529	NM_181507.2(HPS5):c.1784+178dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 1265617	NM_181507.2(HPS5):c.1784+147A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241779	NM_181507.2(HPS5):c.1784+138C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 226661	NM_181507.2(HPS5):c.1635-4C>G	HPS5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1263434	NM_181507.2(HPS5):c.1634+88A>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507065	NM_181507.2(HPS5):c.1549A>G (p.Lys517Glu)	HPS5 (K403E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262983	NM_181507.2(HPS5):c.1511-30G>A	HPS5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1238029	NM_181507.2(HPS5):c.1511-195G>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287260	NM_181507.2(HPS5):c.1510+58C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1371014	NM_181507.2(HPS5):c.1454C>T (p.Thr485Ile)	HPS5 (T485I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431164	NM_181507.2(HPS5):c.1423del (p.Leu475fs)	HPS5 (L361fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 1170145	NM_181507.2(HPS5):c.1324-32dup	HPS5	Duplication (intron variant)	Hermansky-Pudlak syndrome 5 +1 more	GBenign
Select item 1170415	NM_181507.2(HPS5):c.1324-20del	HPS5	Deletion (intron variant)	not provided	GBenign
Select item 1168934	NM_181507.2(HPS5):c.1324-21_1324-20del	HPS5	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 163677	NM_181507.2(HPS5):c.1249C>A (p.Leu417Met)	HPS5 (L417M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 178779	NM_181507.2(HPS5):c.1165-15C>A	HPS5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1167452	NM_181507.2(HPS5):c.1165-20T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260472	NM_181507.2(HPS5):c.1165-295T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281171	NM_181507.2(HPS5):c.1164+187C>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245552	NM_181507.2(HPS5):c.986-40T>G	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262359	NM_181507.2(HPS5):c.986-183C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286777	NM_181507.2(HPS5):c.985+128_985+131del	HPS5	Deletion (intron variant)	not provided	GBenign
Select item 1258824	NM_181507.2(HPS5):c.985+127_985+131del	HPS5	Deletion (intron variant)	not provided	GBenign
Select item 1225908	NM_181507.2(HPS5):c.985+129_985+131del	HPS5	Deletion (intron variant)	not provided	GBenign
Select item 1201323	NM_181507.2(HPS5):c.897-82C>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288294	NM_181507.2(HPS5):c.896+260C>G	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290790	NM_181507.2(HPS5):c.896+257C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191167	NM_181507.2(HPS5):c.896+254G>T	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272120	NM_181507.2(HPS5):c.896+211G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180932	NM_181507.2(HPS5):c.896+144G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280734	NM_181507.2(HPS5):c.825-82A>C	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233355	NM_181507.2(HPS5):c.825-208G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224040	NM_181507.2(HPS5):c.825-240del	HPS5	Deletion (intron variant)	not provided	GBenign
Select item 1265314	NM_181507.2(HPS5):c.825-279T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286600	NM_181507.2(HPS5):c.825-284G>C	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229893	NM_181507.2(HPS5):c.824+257G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247747	NM_181507.2(HPS5):c.824+205_824+206insGGTGG	HPS5	Insertion (intron variant)	not provided	GBenign
Select item 1289918	NM_181507.2(HPS5):c.824+199C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285888	NM_181507.2(HPS5):c.824+161G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262988	NM_181507.2(HPS5):c.824+34A>C	HPS5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 163678	NM_181507.2(HPS5):c.822C>A (p.Leu274=)	HPS5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1233103	NM_181507.2(HPS5):c.611+100dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 1314678	NM_181507.2(HPS5):c.498G>A (p.Met166Ile)	HPS5 (M166I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 197894	NM_181507.2(HPS5):c.345G>A (p.Met115Ile)	HPS5, LOC130005404 (M115I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 431165	NM_181507.2(HPS5):c.285-10A>G	HPS5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1296775	NM_181507.2(HPS5):c.284+210G>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274523	NM_181507.2(HPS5):c.284+27T>G	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191090	NM_181507.2(HPS5):c.220-1G>T	HPS5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1182003	NM_181507.2(HPS5):c.220-62AAT[7]	HPS5	Microsatellite (intron variant)	not provided	GBenign
Select item 1707355	NM_181507.2(HPS5):c.220-58_220-57insAAA	HPS5	Insertion (intron variant)	not provided	GLikely benign
Select item 1296840	NM_181507.2(HPS5):c.220-77_220-76dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 1287496	NM_181507.2(HPS5):c.220-60T>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267280	NM_181507.2(HPS5):c.220-77_220-75dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 1259567	NM_181507.2(HPS5):c.220-77dup	HPS5	Duplication (intron variant)	not provided	GBenign
Select item 1283147	NM_181507.2(HPS5):c.220-63_220-62insT	HPS5	Insertion (intron variant)	not provided	GBenign
Select item 1296771	NM_181507.2(HPS5):c.220-63A>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250773	NM_181507.2(HPS5):c.220-64_220-63insT	HPS5	Insertion (intron variant)	not provided	GBenign
Select item 1179414	NM_181507.2(HPS5):c.219+214C>T	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276844	NM_181507.2(HPS5):c.219+181T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223045	NM_181507.2(HPS5):c.219+25T>A	HPS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 226660	NM_181507.2(HPS5):c.139T>C (p.Leu47=)	HPS5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign

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