3257[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 3311904	NM_032709.3(PYROXD2):c.124G>T (p.Ala42Ser)	HPS1, PYROXD2 (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150247	NM_032709.3(PYROXD2):c.124G>C (p.Ala42Pro)	HPS1, PYROXD2 (A42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463407	NM_032709.3(PYROXD2):c.112G>A (p.Val38Met)	HPS1, PYROXD2 (V38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150255	NM_032709.3(PYROXD2):c.65G>A (p.Arg22Gln)	HPS1, PYROXD2 (R22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457473	NM_032709.3(PYROXD2):c.14G>C (p.Gly5Ala)	HPS1, PYROXD2 (G5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 298305	NM_000195.5(HPS1):c.*1326C>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GBenign
Select item 298306	NM_000195.5(HPS1):c.*1249G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298307	NM_000195.5(HPS1):c.*1235G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298309	NM_000195.5(HPS1):c.1215_1217delinsTCC	HPS1	Indel (3 prime UTR variant)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 298308	NM_000195.5(HPS1):c.*1217T>C	HPS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 298310	NM_000195.5(HPS1):c.*1215C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1 +1 more	GBenign
Select item 880213	NM_000195.5(HPS1):c.*1212T>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298311	NM_000195.5(HPS1):c.*1167G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 298312	NM_000195.5(HPS1):c.*1085G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 877428	NM_000195.5(HPS1):c.*1043C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298313	NM_000195.5(HPS1):c.*1005A>G	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 877429	NM_000195.5(HPS1):c.*1001G>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298314	NM_000195.5(HPS1):c.*982T>C	HPS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 877430	NM_000195.5(HPS1):c.*968G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298315	NM_000195.5(HPS1):c.*955A>G	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1 +1 more	GBenign
Select item 298316	NM_000195.5(HPS1):c.*952T>G	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298317	NM_000195.5(HPS1):c.*943C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 298318	NM_000195.5(HPS1):c.*916G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GBenign
Select item 298319	NM_000195.5(HPS1):c.*768A>G	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298320	NM_000195.5(HPS1):c.*766G>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298321	NM_000195.5(HPS1):c.*736C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GLikely benign
Select item 878454	NM_000195.5(HPS1):c.*719T>C	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298322	NM_000195.5(HPS1):c.*706C>G	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1 +1 more	GBenign
Select item 298323	NM_000195.5(HPS1):c.*694C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 879041	NM_000195.5(HPS1):c.*691G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 879042	NM_000195.5(HPS1):c.*639G>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298324	NM_000195.5(HPS1):c.*635T>C	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298325	NM_000195.5(HPS1):c.*626C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298326	NM_000195.5(HPS1):c.*589G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 880255	NM_000195.5(HPS1):c.*577C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298327	NM_000195.5(HPS1):c.*473G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1 +1 more	GBenign
Select item 298328	NM_000195.5(HPS1):c.*460C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1 +1 more	GBenign
Select item 298329	NM_000195.5(HPS1):c.*452G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 880256	NM_000195.5(HPS1):c.*451C>G	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298330	NM_000195.5(HPS1):c.*403G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298331	NM_000195.5(HPS1):c.*327G>A	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 298332	NM_000195.5(HPS1):c.*324T>C	HPS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 298333	NM_000195.5(HPS1):c.*272C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 877479	NM_000195.5(HPS1):c.*252C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 1249265	NM_000195.5(HPS1):c.147_148insTCCATGGTCTAAAACC	HPS1	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 255497	NM_000195.5(HPS1):c.*12C>T	HPS1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 1 +2 more	GBenign/Likely benign
Select item 1656056	NM_000195.5(HPS1):c.2100C>T (p.Leu700=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126581	NM_000195.5(HPS1):c.2100C>G (p.Leu700=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2676037	NM_000195.5(HPS1):c.2095dup (p.Leu699fs)	HPS1 (L375fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1586291	NM_000195.5(HPS1):c.2095C>T (p.Leu699=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914350	NM_000195.5(HPS1):c.2083_2091del (p.Ser695_Ile697del)	HPS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3106818	NM_000195.5(HPS1):c.2087G>T (p.Arg696Leu)	HPS1 (R576L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1374651	NM_000195.5(HPS1):c.2087G>C (p.Arg696Pro)	HPS1 (R372P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990173	NM_000195.5(HPS1):c.2087G>A (p.Arg696His)	HPS1 (R372H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1695378	NM_000195.5(HPS1):c.2086C>T (p.Arg696Cys)	HPS1 (R372C +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 1521691	NM_000195.5(HPS1):c.2081C>T (p.Ala694Val)	HPS1 (A370V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986094	NM_000195.5(HPS1):c.2071C>T (p.Leu691Phe)	HPS1 (L604F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201407	NM_000195.5(HPS1):c.2069G>A (p.Arg690His)	HPS1 (R570H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 990174	NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys)	HPS1 (R366C +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 877480	NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)	HPS1 (R566Q +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 298334	NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp)	HPS1 (R689W +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 2819082	NM_000195.5(HPS1):c.2064C>T (p.Ala688=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1117478	NM_000195.5(HPS1):c.2061G>A (p.Leu687=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 298335	NM_000195.5(HPS1):c.2058G>C (p.Gln686His)	HPS1 (Q686H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2676049	NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)	HPS1 (T353fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1343447	NM_000195.5(HPS1):c.2057A>G (p.Gln686Arg)	HPS1 (Q362R +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 690342	NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter)	HPS1 (Q362* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 298336	NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg)	HPS1 (G685R +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 1153811	NM_000195.5(HPS1):c.2052C>A (p.Ala684=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211148	NM_000195.5(HPS1):c.2052C>T (p.Ala684=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +2 more	GBenign/Likely benign
Select item 2757650	NM_000195.5(HPS1):c.2037G>C (p.Leu679=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799908	NM_000195.5(HPS1):c.2037G>A (p.Leu679=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2872554	NM_000195.5(HPS1):c.2034C>T (p.Asp678=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707297	NM_000195.5(HPS1):c.2031T>G (p.Thr677=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178379	NM_000195.5(HPS1):c.2030C>G (p.Thr677Ser)	HPS1 (T353S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125385	NM_000195.5(HPS1):c.2028C>A (p.Pro676=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049595	NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro)	HPS1 (S349P +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1145528	NM_000195.5(HPS1):c.2014C>T (p.Leu672=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011649	NM_000195.5(HPS1):c.2010G>T (p.Leu670=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336326	NM_000195.5(HPS1):c.2009T>C (p.Leu670Pro)	HPS1 (L346P +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1922863	NM_000195.5(HPS1):c.2004G>A (p.Leu668=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233780	NM_000195.5(HPS1):c.2001_2003delinsCCC (p.Leu668Pro)	HPS1 (L344P +6 more)	Indel (missense variant)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 1499624	NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro)	HPS1 (L668P +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 732494	NM_000195.5(HPS1):c.2001G>C (p.Leu667=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749831	NM_000195.5(HPS1):c.2000T>C (p.Leu667Pro)	HPS1 (L511P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341376	NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys)	HPS1 (E342K +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 5279	NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)	HPS1 (E666* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 1107295	NM_000195.5(HPS1):c.1995C>T (p.Tyr665=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817694	NM_000195.5(HPS1):c.1989del (p.Arg663fs)	HPS1 (R339fs +6 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2133045	NM_000195.5(HPS1):c.1987A>G (p.Arg663Gly)	HPS1 (R543G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019695	NM_000195.5(HPS1):c.1980G>A (p.Glu660=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990175	NM_000195.5(HPS1):c.1977C>T (p.Thr659=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 793537	NM_000195.5(HPS1):c.1974A>G (p.Pro658=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451096	NM_000195.5(HPS1):c.1973C>T (p.Pro658Leu)	HPS1 (P334L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059855	NM_000195.5(HPS1):c.1970G>A (p.Arg657His)	HPS1 (R534H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185464	NM_000195.5(HPS1):c.1969C>T (p.Arg657Cys)	HPS1 (R333C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 878509	NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys)	HPS1 (N500K +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 1151380	NM_000195.5(HPS1):c.1959C>T (p.Tyr653=)	HPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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