17022[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 877704	NM_181507.2(HPS5):c.*1201A>G	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303847	NM_181507.2(HPS5):c.*1068T>A	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5 +1 more	GBenign
Select item 303848	NM_181507.2(HPS5):c.*1023T>G	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303849	NM_181507.2(HPS5):c.1003_1004del	HPS5	Deletion (3 prime UTR variant)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 303850	NM_181507.2(HPS5):c.*960T>A	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303851	NM_181507.2(HPS5):c.*956T>G	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 878731	NM_181507.2(HPS5):c.*839T>C	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303852	NM_181507.2(HPS5):c.*812A>C	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303853	NM_181507.2(HPS5):c.*804C>T	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5 +1 more	GBenign
Select item 303854	NM_181507.2(HPS5):c.*702A>T	HPS5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 303855	NM_181507.2(HPS5):c.*688A>G	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GLikely benign
Select item 303856	NM_181507.2(HPS5):c.*655A>C	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303857	NM_181507.2(HPS5):c.*475C>T	HPS5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 879327	NM_181507.2(HPS5):c.*469A>G	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303858	NM_181507.2(HPS5):c.*464C>A	HPS5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 303859	NM_181507.2(HPS5):c.*443T>A	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5 +1 more	GBenign
Select item 303860	NM_181507.2(HPS5):c.*362G>A	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GLikely benign
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 880513	NM_181507.2(HPS5):c.*276T>G	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303863	NM_181507.2(HPS5):c.*182C>T	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 880514	NM_181507.2(HPS5):c.*157G>A	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 880515	NM_181507.2(HPS5):c.*95C>A	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 303864	NM_181507.2(HPS5):c.*70C>T	HPS5	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 5 +1 more	GLikely benign
Select item 262982	NM_181507.2(HPS5):c.*5A>G	HPS5	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2848690	NM_181507.2(HPS5):c.3387C>T (p.Ala1129=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747704	NM_181507.2(HPS5):c.3378C>T (p.Ser1126=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068161	NM_181507.2(HPS5):c.3373T>G (p.Trp1125Gly)	HPS5 (W1011G +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 1491034	NM_181507.2(HPS5):c.3365G>A (p.Arg1122Gln)	HPS5 (R1122Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880516	NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp)	HPS5 (R1008W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1651462	NM_181507.2(HPS5):c.3360C>T (p.Cys1120=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722484	NM_181507.2(HPS5):c.3346A>G (p.Met1116Val)	HPS5 (M1002V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2021225	NM_181507.2(HPS5):c.3333C>T (p.Ala1111=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001260	NM_181507.2(HPS5):c.3330-4del	HPS5	Deletion (intron variant)	not provided	GLikely benign
Select item 2078852	NM_181507.2(HPS5):c.3330-8G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973350	NM_181507.2(HPS5):c.3330-14C>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095137	NM_181507.2(HPS5):c.3330-17T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871697	NM_181507.2(HPS5):c.3330-18T>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988615	NM_181507.2(HPS5):c.3330-18T>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025209	NM_181507.2(HPS5):c.3330-19C>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1662710	NM_181507.2(HPS5):c.3329+19A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 799375	NM_181507.2(HPS5):c.3329+10G>A	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011537	NM_181507.2(HPS5):c.3329+7T>G	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872008	NM_181507.2(HPS5):c.3329+7T>C	HPS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876468	NM_181507.2(HPS5):c.3329+6A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2767081	NM_181507.2(HPS5):c.3329+3A>G	HPS5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1468068	NM_181507.2(HPS5):c.3329G>A (p.Arg1110Lys)	HPS5 (R996K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405841	NM_181507.2(HPS5):c.3317A>C (p.Glu1106Ala)	HPS5 (E992A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2732298	NM_181507.2(HPS5):c.3315T>C (p.Ala1105=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788543	NM_181507.2(HPS5):c.3300T>C (p.Asp1100=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1060214	NM_181507.2(HPS5):c.3298G>A (p.Asp1100Asn)	HPS5 (D1100N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 303865	NM_181507.2(HPS5):c.3297C>T (p.Cys1099=)	HPS5	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 5 +1 more	GConflicting classifications of pathogenicity
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 2772362	NM_181507.2(HPS5):c.3288C>G (p.Thr1096=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821431	NM_181507.2(HPS5):c.3285T>C (p.Phe1095=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799284	NM_181507.2(HPS5):c.3282G>A (p.Lys1094=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828068	NM_181507.2(HPS5):c.3264C>T (p.Ala1088=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 303866	NM_181507.2(HPS5):c.3259C>T (p.Leu1087=)	HPS5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877743	NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val)	HPS5 (G972V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 1468679	NM_181507.2(HPS5):c.3256G>A (p.Gly1086Ser)	HPS5 (G1086S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135938	NM_181507.2(HPS5):c.3249G>A (p.Gln1083=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994346	NM_181507.2(HPS5):c.3246A>G (p.Leu1082=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958523	NM_181507.2(HPS5):c.3243G>T (p.Leu1081=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749362	NM_181507.2(HPS5):c.3243G>A (p.Leu1081=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010458	NM_181507.2(HPS5):c.3240A>G (p.Ser1080=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060246	NM_181507.2(HPS5):c.3234T>G (p.Ala1078=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797840	NM_181507.2(HPS5):c.3229C>A (p.Arg1077=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 303867	NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp)	HPS5 (R1077W +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5 +2 more	GBenign/Likely benign
Select item 1380857	NM_181507.2(HPS5):c.3226G>A (p.Asp1076Asn)	HPS5 (D962N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 303868	NM_181507.2(HPS5):c.3214G>A (p.Ala1072Thr)	HPS5 (A1072T +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 2697475	NM_181507.2(HPS5):c.3186G>T (p.Val1062=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844922	NM_181507.2(HPS5):c.3177C>A (p.Pro1059=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446382	NM_181507.2(HPS5):c.3175C>G (p.Pro1059Ala)	HPS5 (P1059A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009448	NM_181507.2(HPS5):c.3173C>T (p.Ser1058Phe)	HPS5 (S1058F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811018	NM_181507.2(HPS5):c.3168G>C (p.Gly1056=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646575	NM_181507.2(HPS5):c.3159C>G (p.Leu1053=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621950	NM_181507.2(HPS5):c.3159C>T (p.Leu1053=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347410	NM_181507.2(HPS5):c.3155G>A (p.Ser1052Asn)	HPS5 (S1052N +1 more)	Single nucleotide variant (missense variant)	HPS5-related disorder	GUncertain significance
Select item 1557027	NM_181507.2(HPS5):c.3141G>A (p.Glu1047=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872457	NM_181507.2(HPS5):c.3136C>T (p.Gln1046Ter)	HPS5 (Q1046* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3010412	NM_181507.2(HPS5):c.3135C>A (p.Pro1045=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917978	NM_181507.2(HPS5):c.3135C>G (p.Pro1045=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119022	NM_181507.2(HPS5):c.3123G>A (p.Thr1041=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502999	NM_181507.2(HPS5):c.3122C>T (p.Thr1041Met)	HPS5 (T1041M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414454	NM_181507.2(HPS5):c.3118A>C (p.Ser1040Arg)	HPS5 (S1040R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427877	NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del)	HPS5 (L1033del +1 more)	Deletion (inframe_deletion)	Hermansky-Pudlak syndrome 5	GPathogenic
Select item 1475980	NM_181507.2(HPS5):c.3097C>T (p.Leu1033Phe)	HPS5 (L1033F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3007756	NM_181507.2(HPS5):c.3096C>T (p.Leu1032=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936074	NM_181507.2(HPS5):c.3091C>A (p.Leu1031Ile)	HPS5 (L917I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505131	NM_181507.2(HPS5):c.3080A>C (p.Glu1027Ala)	HPS5 (E913A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 303869	NM_181507.2(HPS5):c.3076G>A (p.Val1026Met)	HPS5 (V1026M +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5	GUncertain significance
Select item 1595344	NM_181507.2(HPS5):c.3075C>T (p.Thr1025=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957463	NM_181507.2(HPS5):c.3072G>C (p.Glu1024Asp)	HPS5 (E1024D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023175	NM_181507.2(HPS5):c.3066C>T (p.Ile1022=)	HPS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1458721	NM_181507.2(HPS5):c.3063G>A (p.Trp1021Ter)	HPS5 (W907* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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