"GeneDx"[submitter] AND "CP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 1268637	NM_032383.5(HPS3):c.2292+111_2292+112del	CP, HPS3	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1287393	NM_032383.5(HPS3):c.2482-29T>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 163669	NM_032383.5(HPS3):c.2526C>T (p.His842=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2147543	NM_032383.5(HPS3):c.2546C>T (p.Ser849Phe)	CP, HPS3 (S684F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272322	NM_032383.5(HPS3):c.2796+39G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262024	NM_032383.5(HPS3):c.2796+50C>T	CP, HPS3	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3 +2 more	GBenign
Select item 1241005	NM_032383.5(HPS3):c.2796+207_2796+209del	HPS3, CP	Microsatellite (intron variant)	not provided	GBenign
Select item 343715	NM_032383.5(HPS3):c.2887+19dup	CP, HPS3	Duplication (intron variant)	Deficiency of ferroxidase +3 more	GBenign
Select item 1185221	NM_032383.5(HPS3):c.2887+81G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1187229	NM_032383.5(HPS3):c.2887+247A>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263670	NM_032383.5(HPS3):c.2888-1878T>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226894	NM_032383.5(HPS3):c.2888-241G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177970	NM_032383.5(HPS3):c.2888-55A>T	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707212	NM_032383.5(HPS3):c.2888-42G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 343724	NM_032383.5(HPS3):c.97_98insTCACACAC	CP, HPS3	Insertion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343721	NM_032383.5(HPS3):c.*97CA[23]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343720	NM_032383.5(HPS3):c.*97CA[22]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343719	NM_032383.5(HPS3):c.*97CA[21]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343718	NM_032383.5(HPS3):c.*97CA[20]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1286321	NM_032383.5(HPS3):c.*97CA[18]	CP, HPS3	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 343731	NM_032383.5(HPS3):c.*128A>G	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Deficiency of ferroxidase +2 more	GBenign/Likely benign
Select item 343733	NM_032383.5(HPS3):c.*170C>T	HPS3, CP	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +1 more	GLikely benign
Select item 343734	NM_032383.5(HPS3):c.*172G>A	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Deficiency of ferroxidase +2 more	GBenign/Likely benign
Select item 343746	NM_000096.4(CP):c.*509A>C	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 899641	NM_000096.4(CP):c.*474T>C	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome 3 +2 more	GBenign/Likely benign
Select item 343749	NM_000096.4(CP):c.*137C>T	CP, HPS3	Single nucleotide variant (3 prime UTR variant)	Hermansky-Pudlak syndrome +2 more	GLikely benign
Select item 128842	NM_000096.4(CP):c.3182-4A>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1275086	NM_000096.4(CP):c.3182-132T>C	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198081	NM_000096.4(CP):c.3182-251C>A	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209317	NM_000096.4(CP):c.3182-311A>G	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226403	NM_000096.4(CP):c.3019-158A>C	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223721	NM_000096.4(CP):c.3019-165T>A	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257508	NM_000096.4(CP):c.3018+96C>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198134	NM_000096.4(CP):c.3011A>G (p.Gln1004Arg)	CP (Q1004R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128841	NM_000096.4(CP):c.2991T>C (p.His997=)	CP, HPS3	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1810521	NM_000096.4(CP):c.2961G>A (p.Met987Ile)	CP (M987I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1241715	NM_000096.4(CP):c.2878+197C>T	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242423	NM_000096.4(CP):c.2878+97A>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 903310	NM_000096.4(CP):c.2878+12T>G	CP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 128840	NM_000096.4(CP):c.2793A>G (p.Leu931=)	CP	Single nucleotide variant (synonymous variant +1 more)	Deficiency of ferroxidase +1 more	GConflicting classifications of pathogenicity
Select item 42054	NM_000096.4(CP):c.2684G>C (p.Gly895Ala)	CP (G895A)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +2 more	GConflicting classifications of pathogenicity
Select item 194589	NM_000096.4(CP):c.2662-12T>C	CP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1218958	NM_000096.4(CP):c.2662-123T>C	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289079	NM_000096.4(CP):c.2661+133T>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188078	NM_000096.4(CP):c.2661+44CA[2]	CP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 17562	NM_000096.4(CP):c.2630G>A (p.Trp877Ter)	CP (W877*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 210756	NM_000096.4(CP):c.2571C>T (p.Tyr857=)	CP	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1293893	NM_000096.4(CP):c.2555-87GT[21]	CP	Microsatellite (intron variant)	not provided	GBenign
Select item 1275218	NM_000096.4(CP):c.2555-87GT[20]	CP	Microsatellite (intron variant)	not provided	GBenign
Select item 1270761	NM_000096.4(CP):c.2555-87GT[22]	CP	Microsatellite (intron variant)	not provided	GBenign
Select item 1286951	NM_000096.4(CP):c.2555-87GT[17]	CP	Microsatellite (intron variant)	not provided	GBenign
Select item 1256884	NM_000096.4(CP):c.2555-87GT[18]	CP	Microsatellite (intron variant)	not provided	GBenign
Select item 1243305	NM_000096.4(CP):c.2555-87GT[16]	CP	Microsatellite (intron variant)	not provided	GBenign
Select item 1210781	NM_000096.4(CP):c.2555-191_2555-169del	CP	Deletion (intron variant)	not provided	GLikely benign
Select item 1256792	NM_000096.4(CP):c.2554+330T>C	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237128	NM_000096.4(CP):c.2554+330T>A	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200307	NM_000096.4(CP):c.2554+284C>T	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266182	NM_000096.4(CP):c.2554+222A>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225635	NM_000096.4(CP):c.2554+96G>A	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284744	NM_000096.4(CP):c.2554+17G>A	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase +2 more	GBenign/Likely benign
Select item 707265	NM_000096.4(CP):c.2525A>G (p.Glu842Gly)	CP (E842G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 284863	NM_000096.4(CP):c.2522C>G (p.Thr841Arg)	CP (T841R)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +2 more	GBenign/Likely benign
Select item 2503219	NM_000096.4(CP):c.2503_2511del (p.His835_His837del)	CP	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1268348	NM_000096.4(CP):c.2426-126G>A	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268783	NM_000096.4(CP):c.2426-248A>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260390	NM_000096.4(CP):c.2426-289A>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274534	NM_000096.4(CP):c.2425+259G>T	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246271	NM_000096.4(CP):c.2425+223C>T	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191254	NM_000096.4(CP):c.2425+209A>G	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128839	NM_000096.4(CP):c.2378G>A (p.Arg793His)	CP (R793H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
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 343758	NM_000096.4(CP):c.2286-14dup	CP	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1166751	NM_000096.4(CP):c.2286-4del	CP	Deletion (intron variant)	Deficiency of ferroxidase +1 more	GBenign
Select item 343759	NM_000096.4(CP):c.2286-12T>G	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase +1 more	GBenign/Likely benign
Select item 343760	NM_000096.4(CP):c.2286-15del	CP	Deletion (intron variant)	Deficiency of ferroxidase +1 more	GBenign
Select item 194151	NM_000096.4(CP):c.2286-15G>T	CP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1222682	NM_000096.4(CP):c.2286-148G>T	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251129	NM_000096.4(CP):c.2285+171C>T	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206528	NM_000096.4(CP):c.2285+142C>T	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227792	NM_000096.4(CP):c.2285+114CAA[7]	CP	Microsatellite (intron variant)	not provided	GBenign
Select item 1251044	NM_000096.4(CP):c.2285+96del	CP	Deletion (intron variant)	not provided	GBenign
Select item 1272104	NM_000096.4(CP):c.2285+76A>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702643	NM_000096.4(CP):c.2269C>A (p.His757Asn)	CP (H757N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1188269	NM_000096.4(CP):c.2078-133G>A	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269755	NM_000096.4(CP):c.2078-146_2078-145insCCT	CP	Insertion (intron variant)	not provided	GBenign
Select item 1253947	NM_000096.4(CP):c.2078-147G>C	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229653	NM_000096.4(CP):c.2078-192T>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293858	NM_000096.4(CP):c.2078-200G>A	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222454	NM_000096.4(CP):c.2078-263C>T	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128838	NM_000096.4(CP):c.1950A>C (p.Gly650=)	CP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 381716	NM_000096.4(CP):c.1948G>A (p.Gly650Arg)	CP (G650R)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase +1 more	GPathogenic/Likely pathogenic
Select item 1293827	NM_000096.4(CP):c.1864+113C>T	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253233	NM_000096.4(CP):c.1864+62T>C	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232102	NM_000096.4(CP):c.1714-38T>C	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226179	NM_000096.4(CP):c.1714-289T>G	CP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203751	NM_000096.4(CP):c.1713+33A>T	CP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213616	NM_000096.4(CP):c.1713+17dup	CP	Duplication (intron variant)	not provided	GLikely benign
Select item 3252773	NM_000096.4(CP):c.1713G>A (p.Gln571=)	CP	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance

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