"Ambry Genetics"[submitter] AND "CP"[gene] - ClinVar

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284727	NM_032383.5(HPS3):c.2312A>G (p.Glu771Gly)	CP, HPS3 (E606G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106832	NM_032383.5(HPS3):c.2315A>G (p.Asp772Gly)	CP, HPS3 (D607G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2171126	NM_032383.5(HPS3):c.2333T>C (p.Leu778Ser)	CP, HPS3 (L778S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2079630	NM_032383.5(HPS3):c.2509A>G (p.Ile837Val)	CP, HPS3 (I672V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 991444	NM_032383.5(HPS3):c.2524C>T (p.His842Tyr)	CP, HPS3 (H677Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2281549	NM_032383.5(HPS3):c.2639T>C (p.Leu880Ser)	CP, HPS3 (L715S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218748	NM_032383.5(HPS3):c.2698C>T (p.Arg900Cys)	CP, HPS3 (R900C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106833	NM_032383.5(HPS3):c.2747C>T (p.Pro916Leu)	CP, HPS3 (P751L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284729	NM_032383.5(HPS3):c.2824G>A (p.Glu942Lys)	CP, HPS3 (E777K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1394592	NM_032383.5(HPS3):c.2827C>G (p.Leu943Val)	CP, HPS3 (L778V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2181737	NM_032383.5(HPS3):c.2846G>A (p.Cys949Tyr)	CP, HPS3 (C949Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2201957	NM_032383.5(HPS3):c.2899A>G (p.Ile967Val)	CP, HPS3 (I802V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 899562	NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)	CP, HPS3 (N979S +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +2 more	GUncertain significance
Select item 2156442	NM_032383.5(HPS3):c.2938G>A (p.Val980Ile)	CP, HPS3 (V815I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2402479	NM_032383.5(HPS3):c.2983C>G (p.Leu995Val)	CP, HPS3 (L830V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316037	NM_032383.5(HPS3):c.2987A>G (p.Tyr996Cys)	CP, HPS3 (Y996C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364399	NM_000096.4(CP):c.3140A>T (p.His1047Leu)	CP (H1047L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617156	NM_000096.4(CP):c.3123T>A (p.His1041Gln)	CP (H1041Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622962	NM_000096.4(CP):c.3004A>T (p.Ser1002Cys)	CP (S1002C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 343750	NM_000096.4(CP):c.2998G>A (p.Gly1000Ser)	CP (G1000S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 3076498	NM_000096.4(CP):c.2960T>C (p.Met987Thr)	CP (M987T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1423779	NM_000096.4(CP):c.2900G>C (p.Gly967Ala)	CP (G967A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2618956	NM_000096.4(CP):c.2864G>A (p.Ser955Asn)	CP (S955N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283326	NM_000096.4(CP):c.2798A>C (p.Asp933Ala)	CP (D933A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076497	NM_000096.4(CP):c.2652T>A (p.Asp884Glu)	CP (D884E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525490	NM_000096.4(CP):c.2515G>A (p.Val839Ile)	CP (V839I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378263	NM_000096.4(CP):c.2409A>T (p.Glu803Asp)	CP (E803D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207160	NM_000096.4(CP):c.2408A>G (p.Glu803Gly)	CP (E803G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2068185	NM_000096.4(CP):c.2407G>C (p.Glu803Gln)	CP (E803Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2536097	NM_000096.4(CP):c.2376C>A (p.Phe792Leu)	CP (F792L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1524678	NM_000096.4(CP):c.2354G>A (p.Arg785Gln)	CP (R785Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3076496	NM_000096.4(CP):c.2339A>C (p.Lys780Thr)	CP (K780T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459363	NM_000096.4(CP):c.2239C>T (p.Pro747Ser)	CP (P747S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1019233	NM_000096.4(CP):c.2189G>T (p.Gly730Val)	CP (G730V)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2365464	NM_000096.4(CP):c.2152T>C (p.Cys718Arg)	CP (C718R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269066	NM_000096.4(CP):c.2128A>G (p.Lys710Glu)	CP (K710E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210734	NM_000096.4(CP):c.2116A>G (p.Thr706Ala)	CP (T706A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1507918	NM_000096.4(CP):c.2065C>T (p.Pro689Ser)	CP (P689S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2056463	NM_000096.4(CP):c.2051C>T (p.Thr684Met)	CP (T684M)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2539322	NM_000096.4(CP):c.2038C>G (p.Gln680Glu)	CP (Q680E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300314	NM_000096.4(CP):c.2030T>C (p.Leu677Pro)	CP (L677P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295356	NM_000096.4(CP):c.2017G>A (p.Asp673Asn)	CP (D673N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434819	NM_000096.4(CP):c.1960G>A (p.Asp654Asn)	CP (D654N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1509722	NM_000096.4(CP):c.1922C>T (p.Ser641Leu)	CP (S641L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 902533	NM_000096.4(CP):c.1907T>C (p.Met636Thr)	CP (M636T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 659000	NM_000096.4(CP):c.1900C>A (p.Leu634Ile)	CP (L634I)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2279828	NM_000096.4(CP):c.1882T>A (p.Tyr628Asn)	CP (Y628N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 343764	NM_000096.4(CP):c.1774C>G (p.Leu592Val)	CP (L592V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2046464	NM_000096.4(CP):c.1748C>T (p.Thr583Ile)	CP (T583I)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 1381810	NM_000096.4(CP):c.1726A>G (p.Lys576Glu)	CP (K576E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3076494	NM_000096.4(CP):c.1593T>A (p.Asp531Glu)	CP (D531E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1404214	NM_000096.4(CP):c.1546A>G (p.Thr516Ala)	CP (T516A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1901766	NM_000096.4(CP):c.1526T>C (p.Val509Ala)	CP (V509A)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 3076493	NM_000096.4(CP):c.1507C>A (p.Pro503Thr)	CP (P503T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492739	NM_000096.4(CP):c.1411T>G (p.Tyr471Asp)	CP (Y471D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468717	NM_000096.4(CP):c.1391C>G (p.Thr464Ser)	CP (T464S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234185	NM_000096.4(CP):c.1333C>T (p.His445Tyr)	CP (H445Y)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 1958247	NM_000096.4(CP):c.1324G>A (p.Glu442Lys)	CP (E442K)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 3269067	NM_000096.4(CP):c.1307G>C (p.Arg436Pro)	CP (R436P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513225	NM_000096.4(CP):c.1307G>A (p.Arg436Gln)	CP (R436Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 343773	NM_000096.4(CP):c.1217C>A (p.Ala406Glu)	CP (A406E)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +2 more	GConflicting classifications of pathogenicity
Select item 343775	NM_000096.4(CP):c.1191C>G (p.Asn397Lys)	CP (N397K)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +2 more	GUncertain significance
Select item 2440519	NM_000096.4(CP):c.1169T>C (p.Ile390Thr)	CP (I390T)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2553487	NM_000096.4(CP):c.1056C>A (p.Phe352Leu)	CP (F352L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076501	NM_000096.4(CP):c.971C>G (p.Ala324Gly)	CP (A324G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 343779	NM_000096.4(CP):c.938C>T (p.Thr313Ile)	CP (T313I)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +2 more	GConflicting classifications of pathogenicity
Select item 1345438	NM_000096.4(CP):c.921G>T (p.Lys307Asn)	CP (K307N)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 3076500	NM_000096.4(CP):c.892T>C (p.Phe298Leu)	CP (F298L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305434	NM_000096.4(CP):c.800T>G (p.Phe267Cys)	CP (F267C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1002426	NM_000096.4(CP):c.791G>C (p.Gly264Ala)	CP (G264A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2320423	NM_000096.4(CP):c.699A>C (p.Glu233Asp)	CP (E233D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1331392	NM_000096.4(CP):c.623A>G (p.Glu208Gly)	CP (E208G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 521552	NM_000096.4(CP):c.583G>A (p.Gly195Arg)	CP (G195R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2547512	NM_000096.4(CP):c.467C>T (p.Thr156Ile)	CP (T156I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2152809	NM_000096.4(CP):c.390T>A (p.His130Gln)	CP (H130Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1503377	NM_000096.4(CP):c.301A>G (p.Thr101Ala)	CP (T101A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1470883	NM_000096.4(CP):c.260C>T (p.Pro87Leu)	CP (P87L)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 903438	NM_000096.4(CP):c.199T>C (p.Tyr67His)	CP (Y67H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 343788	NM_000096.4(CP):c.164A>G (p.Tyr55Cys)	CP (Y55C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2152841	NM_000096.4(CP):c.117T>A (p.His39Gln)	CP (H39Q)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance

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Items: 80