8546[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 59627	GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1	AGGF1, AP3B1 +23 more	Copy number loss	See cases	GPathogenic
Select item 369508	NM_001271769.2(AP3B1):c.*588A>G	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome	GLikely benign
Select item 354212	NM_003664.5(AP3B1):c.*552TAAA[1]	AP3B1	Microsatellite (3 prime UTR variant)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 354213	NM_003664.5(AP3B1):c.*507G>A	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 904842	NM_003664.5(AP3B1):c.*482C>T	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 354214	NM_003664.5(AP3B1):c.*447C>T	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 904844	NM_003664.5(AP3B1):c.*380G>A	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 904843	NM_003664.5(AP3B1):c.*380G>C	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 354215	NM_003664.5(AP3B1):c.*379A>G	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2	GBenign
Select item 906458	NM_003664.5(AP3B1):c.*191C>G	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 354216	NM_003664.5(AP3B1):c.*141T>C	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 354217	NM_003664.5(AP3B1):c.*107T>A	AP3B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 354218	NM_003664.5(AP3B1):c.*101T>C	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 354219	NM_003664.5(AP3B1):c.*69dup	AP3B1	Duplication (3 prime UTR variant)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 906459	NM_003664.5(AP3B1):c.*44G>A	AP3B1	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 2 +1 more	GBenign
Select item 1207984	NM_003664.5(AP3B1):c.*41A>G	AP3B1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3031082	NM_003664.5(AP3B1):c.*1C>A	AP3B1	Single nucleotide variant (3 prime UTR variant)	AP3B1-related disorder	GLikely benign
Select item 2958774	NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1062450	NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala)	AP3B1 (P1040A +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2725512	NM_003664.5(AP3B1):c.3264G>A (p.Lys1088=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 950967	NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln)	AP3B1 (R1085Q +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1086954	NM_003664.5(AP3B1):c.3237T>A (p.Ile1079=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 947934	NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile)	AP3B1 (T1028I +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1415971	NM_003664.5(AP3B1):c.3226A>G (p.Lys1076Glu)	AP3B1 (K1027E +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1057159	NM_003664.5(AP3B1):c.3214A>G (p.Ile1072Val)	AP3B1 (I1023V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 354220	NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GConflicting classifications of pathogenicity
Select item 2892356	NM_003664.5(AP3B1):c.3204C>G (p.Ala1068=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 3021279	NM_003664.5(AP3B1):c.3201A>T (p.Thr1067=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1191413	NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe)	AP3B1 (S1017F +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1598278	NM_003664.5(AP3B1):c.3195C>G (p.Gly1065=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1002087	NM_003664.5(AP3B1):c.3194G>A (p.Gly1065Asp)	AP3B1 (G1016D +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1393235	NM_003664.5(AP3B1):c.3190G>A (p.Glu1064Lys)	AP3B1 (E1015K +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2121326	NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)	AP3B1 (K1063R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 3051415	NM_003664.5(AP3B1):c.3177A>G (p.Thr1059=)	AP3B1	Single nucleotide variant (synonymous variant)	AP3B1-related disorder	GLikely benign
Select item 836276	NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile)	AP3B1 (M1056I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2 +1 more	GUncertain significance
Select item 1102770	NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2633567	NM_003664.5(AP3B1):c.3154del (p.Ser1052fs)	AP3B1 (S1003fs +1 more)	Deletion (frameshift variant)	AP3B1-related disorder	GLikely pathogenic
Select item 1463564	NM_003664.5(AP3B1):c.3136G>A (p.Ala1046Thr)	AP3B1 (A1046T +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1664481	NM_003664.5(AP3B1):c.3132-5T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2121340	NM_003664.5(AP3B1):c.3132-16C>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1343575	NM_003664.5(AP3B1):c.3132-22G>A	AP3B1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1179505	NM_003664.5(AP3B1):c.3132-299A>C	AP3B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285669	NM_003664.5(AP3B1):c.3131+282T>A	AP3B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208778	NM_003664.5(AP3B1):c.3131+104TA[7]	AP3B1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1674367	NM_003664.5(AP3B1):c.3131+19G>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2083420	NM_003664.5(AP3B1):c.3131+18C>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 354221	NM_003664.5(AP3B1):c.3131+5G>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2 +2 more	GUncertain significance
Select item 1493808	NM_003664.5(AP3B1):c.3131+1G>A	AP3B1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1391747	NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg)	AP3B1 (H1043R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1146343	NM_003664.5(AP3B1):c.3123T>C (p.Asn1041=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 947498	NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His)	AP3B1 (D1040H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2429197	NM_003664.5(AP3B1):c.3090del (p.Asn1031fs)	AP3B1 (N1031fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1997119	NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val)	AP3B1 (I1022V +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1511603	NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala)	AP3B1 (V1021A +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2035939	NM_003664.5(AP3B1):c.3060T>C (p.Ser1020=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 744050	NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1508573	NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg)	AP3B1 (Q966R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 226459	NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)	AP3B1 (A1008del +1 more)	Microsatellite (inframe_deletion)	Hermansky-Pudlak syndrome +4 more	GBenign/Likely benign
Select item 3239765	NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)	AP3B1 (T1006fs +1 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 2988904	NM_003664.5(AP3B1):c.3000A>G (p.Leu1000=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 195962	NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)	AP3B1 (V999M +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2862724	NM_003664.5(AP3B1):c.2994A>T (p.Gly998=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 972016	NM_003664.5(AP3B1):c.2993-3C>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1968515	NM_003664.5(AP3B1):c.2993-12T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1170369	NM_003664.5(AP3B1):c.2993-15C>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GBenign
Select item 1667725	NM_003664.5(AP3B1):c.2992+20T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1618491	NM_003664.5(AP3B1):c.2992+10G>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1036150	NM_003664.5(AP3B1):c.2992+3G>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1393238	NM_003664.5(AP3B1):c.2987A>G (p.Glu996Gly)	AP3B1 (E947G +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2790631	NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)	AP3B1 (K995E +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1696232	NM_003664.5(AP3B1):c.2968_2969delinsTT (p.Glu990Leu)	AP3B1 (E941L +1 more)	Indel (missense variant)	not specified	GUncertain significance
Select item 1694164	NM_003664.5(AP3B1):c.2969A>T (p.Glu990Val)	AP3B1 (E941V +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694159	NM_003664.5(AP3B1):c.2968G>T (p.Glu990Ter)	AP3B1 (E941* +1 more)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome	GUncertain significance
Select item 1912345	NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr)	AP3B1 (M988T +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1465418	NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile)	AP3B1 (L983I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 648800	NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser)	AP3B1 (P978S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 763291	NM_003664.5(AP3B1):c.2928G>A (p.Gln976=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1161698	NM_003664.5(AP3B1):c.2922T>C (p.Asn974=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 464884	NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)	AP3B1 (N972S +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2781046	NM_003664.5(AP3B1):c.2907T>C (p.Asp969=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 354222	NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly)	AP3B1 (D969G +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 645000	NM_003664.5(AP3B1):c.2900A>G (p.Lys967Arg)	AP3B1 (K967R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2676740	NM_003664.5(AP3B1):c.2898del (p.Lys967fs)	AP3B1 (K918fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 952114	NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile)	AP3B1 (T917I +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2712086	NM_003664.5(AP3B1):c.2895-12G>T	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1105344	NM_003664.5(AP3B1):c.2895-19T>A	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 1224904	NM_003664.5(AP3B1):c.2895-210A>G	AP3B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2159365	NM_003664.5(AP3B1):c.2894+10A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2869163	NM_003664.5(AP3B1):c.2894+6T>C	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1051921	NM_003664.5(AP3B1):c.2894+4A>G	AP3B1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2676743	NM_003664.5(AP3B1):c.2894+1G>T	AP3B1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 2	GLikely pathogenic
Select item 1490295	NM_003664.5(AP3B1):c.2893T>C (p.Cys965Arg)	AP3B1 (C916R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 2114116	NM_003664.5(AP3B1):c.2891T>C (p.Leu964Ser)	AP3B1 (L915S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 2	GUncertain significance
Select item 1696231	NM_003664.5(AP3B1):c.2890T>G (p.Leu964Val)	AP3B1 (L915V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625888	NM_003664.5(AP3B1):c.2890T>C (p.Leu964=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GConflicting classifications of pathogenicity
Select item 354223	NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1077601	NM_003664.5(AP3B1):c.2856C>T (p.Asp952=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 739572	NM_003664.5(AP3B1):c.2853T>C (p.Ile951=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign
Select item 2725679	NM_003664.5(AP3B1):c.2832C>T (p.Ser944=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2	GLikely benign

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