C0079504[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227429	NM_032383.5(HPS3):c.51C>T (p.Pro17=)	HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 226655	NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)	HPS3 (E275K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 178776	NM_032383.5(HPS3):c.970+7A>G	HPS3	Single nucleotide variant (intron variant)	not specified +2 more	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 343701	NM_032383.5(HPS3):c.1152C>T (p.His384=)	HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 4609	NM_032383.5(HPS3):c.1163+1G>A	HPS3	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 3 +2 more	GPathogenic
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)	not specified +2 more	GBenign
Select item 226653	NM_032383.5(HPS3):c.2055G>A (p.Leu685=)	HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 226654	NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)	HPS3 (G739R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 163669	NM_032383.5(HPS3):c.2526C>T (p.His842=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 343715	NM_032383.5(HPS3):c.2887+19dup	CP, HPS3	Duplication (intron variant)	Hermansky-Pudlak syndrome +3 more	GBenign
Select item 226459	NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)	AP3B1 (A1008del +1 more)	Microsatellite (inframe_deletion)	not specified +4 more	GBenign/Likely benign
Select item 354223	NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)	AP3B1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 210189	NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)	AP3B1 (F887L +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome +4 more	GConflicting classifications of pathogenicity
Select item 210188	NM_003664.5(AP3B1):c.2613C>T (p.His871=)	AP3B1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 179635	NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)	AP3B1 (K804del +1 more)	Deletion (inframe_deletion)	not provided +4 more	GBenign/Likely benign
Select item 162752	NM_003664.5(AP3B1):c.2016T>C (p.Ala672=)	AP3B1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 178702	NM_003664.5(AP3B1):c.1969-10G>A	AP3B1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 162753	NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)	AP3B1 (V585E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 178703	NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)	AP3B1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 178704	NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)	AP3B1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 178705	NM_003664.5(AP3B1):c.1038T>C (p.Asn346=)	AP3B1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 354253	NM_003664.5(AP3B1):c.280-6dup	AP3B1	Duplication (intron variant)	not specified +3 more	GBenign
Select item 355969	NM_032122.5(DTNBP1):c.489-8dup	DTNBP1	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 21099	NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)	HPS1 (Q603R +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 194700	NM_000195.5(HPS1):c.1698G>A (p.Ser566=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +2 more	GBenign/Likely benign
Select item 5277	NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	HPS1 (H341fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 1 +3 more	GPathogenic
Select item 21094	NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)	HPS1 (P491R +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 163664	NM_000195.5(HPS1):c.1397+8G>T	HPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 163665	NM_000195.5(HPS1):c.1397+7G>C	HPS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 5278	NM_000195.5(HPS1):c.972dup (p.Met325fs)	HPS1, MIR4685 (M238fs +6 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21108	NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)	HPS1 (G283W +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign
Select item 167185	NM_000195.5(HPS1):c.636C>T (p.Leu212=)	HPS1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 179629	NM_000195.5(HPS1):c.472C>T (p.Arg158Cys)	HPS1 (R158C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 163666	NM_000195.5(HPS1):c.297C>T (p.Thr99=)	HPS1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 163667	NM_000195.5(HPS1):c.11T>C (p.Val4Ala)	HPS1 (V4A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 208586	NM_024747.6(HPS6):c.238dup (p.Asp80fs)	HPS6, LOC130004578 (D80fs)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GConflicting classifications of pathogenicity
Select item 226658	NM_022081.6(HPS4):c.1899C>T (p.Val633=)	HPS4	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 163670	NM_022081.6(HPS4):c.1875G>T (p.Gln625His)	HPS4 (Q625H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign
Select item 163671	NM_022081.6(HPS4):c.1816C>T (p.His606Tyr)	HPS4 (H606Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign
Select item 163672	NM_022081.6(HPS4):c.1654G>A (p.Val552Met)	HPS4 (V552M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 163673	NM_022081.6(HPS4):c.1327C>G (p.Leu443Val)	HPS4 (L443V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 228266	NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)	HPS4 (Q373* +2 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 341016	NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)	HPS4 (T251S +2 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome +4 more	GConflicting classifications of pathogenicity
Select item 226659	NM_022081.6(HPS4):c.696G>A (p.Pro232=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 163674	NM_022081.6(HPS4):c.686A>G (p.Glu229Gly)	HPS4 (E229G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 163675	NM_022081.6(HPS4):c.558G>A (p.Ser186=)	HPS4	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 211153	NM_022081.6(HPS4):c.250A>G (p.Ile84Val)	HPS4 (I79V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 49