4026[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ALG3, AP2M1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ABCC5, ABCC5-AS1 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	LOC129938004, LOC129938005 +399 more	Copy number loss	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 155397	GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1	TPRG1-AS2, UTS2B +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 57871	GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1	BCL6, CLDN1 +70 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 148755	GRCh38/hg38 3q27.3-28(chr3:187521625-188779207)x1	BCL6, FLJ42393 +21 more	Copy number loss	See cases	GUncertain significance
Select item 148090	GRCh38/hg38 3q27.3-28(chr3:187758581-188811242)x1	FLJ42393, LINC01991 +17 more	Copy number loss	See cases	GUncertain significance
Select item 151985	GRCh38/hg38 3q27.3-28(chr3:187897470-188570860)x3	FLJ42393, LINC01991 +14 more	Copy number gain	See cases	GUncertain significance
Select item 545291	NC_000003.12:g.(?_188343948)_(188435451_?)del	LPP	Deletion	Schizophrenia	GLikely pathogenic
Select item 57872	GRCh38/hg38 3q28(chr3:188362559-189767088)x1	LOC111162620, LOC123464480 +22 more	Copy number loss	See cases	GPathogenic
Select item 1242675	NM_001375462.1(LPP):c.-9-216_-9-214del	LPP	Deletion (intron variant)	not provided	GBenign
Select item 1182384	NM_001375462.1(LPP):c.-9-202C>T	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266998	NM_001375462.1(LPP):c.-9-81T>G	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2287386	NM_001375462.1(LPP):c.32G>A (p.Ser11Asn)	LPP (S11N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3034955	NM_001375462.1(LPP):c.64C>T (p.Arg22Trp)	LPP (R22W)	Single nucleotide variant (missense variant +1 more)	LPP-related condition	GLikely benign
Select item 2263371	NM_001375462.1(LPP):c.169C>G (p.Pro57Ala)	LPP (P57A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540976	NM_001375462.1(LPP):c.188G>T (p.Gly63Val)	LPP (G63V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1269445	NM_001375462.1(LPP):c.193+253C>A	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 545292	NC_000003.12:g.(?_188420063)_(188540464_?)del	LPP	Deletion	Schizophrenia	GLikely pathogenic
Select item 145952	GRCh38/hg38 3q28(chr3:188439867-188763043)x1	LPP, LPP-AS1 +1 more	Copy number loss	See cases	GLikely benign
Select item 2485089	NM_001375462.1(LPP):c.299A>C (p.Lys100Thr)	LPP (K100T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1282245	NM_001375462.1(LPP):c.306+58A>T	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275911	NM_001375462.1(LPP):c.306+90G>T	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 149265	GRCh38/hg38 3q28(chr3:188491113-188671505)x1	LPP, LPP-AS1	Copy number loss	See cases	GUncertain significance
Select item 2377404	NM_001375462.1(LPP):c.340C>T (p.Arg114Cys)	LPP (R114C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348186	NM_001375462.1(LPP):c.418C>T (p.Arg140Trp)	LPP (R140W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1234700	NM_001375462.1(LPP):c.429+106_429+121del	LPP	Deletion (intron variant)	not provided	GBenign
Select item 1260569	NM_001375462.1(LPP):c.429+106_429+117del	LPP	Deletion (intron variant)	not provided	GBenign
Select item 1246296	NM_001375462.1(LPP):c.429+106G>T	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224088	NM_001375462.1(LPP):c.429+118T>G	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271654	NM_001375462.1(LPP):c.429+122T>G	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182900	NM_001375462.1(LPP):c.429+126T>G	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275168	NM_001375462.1(LPP):c.429+130T>G	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237160	NM_001375462.1(LPP):c.429+199dup	LPP	Duplication (intron variant)	not provided	GBenign
Select item 1280879	NM_001375462.1(LPP):c.436A>G (p.Thr146Ala)	LPP (T146A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 998374	NM_001375462.1(LPP):c.451T>C (p.Ser151Pro)	LPP (S151P)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +1 more	GConflicting classifications of pathogenicity
Select item 1050142	NM_001375462.1(LPP):c.457C>A (p.Pro153Thr)	LPP (P153T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1319867	NM_001375462.1(LPP):c.464C>T (p.Ser155Leu)	LPP (S155L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2654351	NM_001375462.1(LPP):c.465G>A (p.Ser155=)	LPP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2295481	NM_001375462.1(LPP):c.467C>T (p.Thr156Ile)	LPP (T156I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 788854	NM_001375462.1(LPP):c.500C>T (p.Pro167Leu)	LPP (P167L)	Single nucleotide variant (missense variant +1 more)	LPP-related condition +1 more	GLikely benign
Select item 2531111	NM_001375462.1(LPP):c.533C>G (p.Ser178Cys)	LPP (S178C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593875	NM_001375462.1(LPP):c.553G>T (p.Ala185Ser)	LPP (A185S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327852	NM_001375462.1(LPP):c.577G>C (p.Val193Leu)	LPP (V193L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 775935	NM_001375462.1(LPP):c.588C>T (p.Ile196=)	LPP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2260306	NM_001375462.1(LPP):c.631A>G (p.Thr211Ala)	LPP (T48A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3033483	NM_001375462.1(LPP):c.635C>T (p.Thr212Met)	LPP (T212M +1 more)	Single nucleotide variant (missense variant +1 more)	LPP-related condition	GLikely benign
Select item 2545620	NM_001375462.1(LPP):c.656C>T (p.Pro219Leu)	LPP (P56L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528171	NM_001375462.1(LPP):c.680C>T (p.Ser227Leu)	LPP (S64L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1012710	NM_001375462.1(LPP):c.737C>T (p.Ser246Leu)	LPP (S246L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2300552	NM_001375462.1(LPP):c.745C>A (p.Gln249Lys)	LPP (Q249K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 785075	NM_001375462.1(LPP):c.775T>C (p.Ser259Pro)	LPP (S259P)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2395158	NM_001375462.1(LPP):c.784T>C (p.Cys262Arg)	LPP (C262R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1050488	NM_001375462.1(LPP):c.808G>A (p.Gly270Ser)	LPP (G107S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2341166	NM_001375462.1(LPP):c.848C>T (p.Pro283Leu)	LPP (P120L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476665	NM_001375462.1(LPP):c.857G>A (p.Gly286Glu)	LPP (G123E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244886	NM_001375462.1(LPP):c.869C>T (p.Ala290Val)	LPP (A290V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2335387	NM_001375462.1(LPP):c.893A>G (p.Glu298Gly)	LPP (E135G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3058754	NM_001375462.1(LPP):c.906A>G (p.Ala302=)	LPP	Single nucleotide variant (synonymous variant +2 more)	LPP-related condition	GLikely benign
Select item 2530402	NM_001375462.1(LPP):c.922G>A (p.Gly308Arg)	LPP (G308R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1256960	NM_001375462.1(LPP):c.942C>T (p.Asp314=)	LPP	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2615313	NM_001375462.1(LPP):c.944C>A (p.Pro315His)	LPP (P315H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2559804	NM_001375462.1(LPP):c.1033A>T (p.Met345Leu)	LPP (M182L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1256811	NM_001375462.1(LPP):c.1036T>C (p.Tyr346His)	LPP (Y183H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2459051	NM_001375462.1(LPP):c.1043T>A (p.Val348Asp)	LPP (V185D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2357082	NM_001375462.1(LPP):c.1066A>C (p.Ile356Leu)	LPP (I193L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2226876	NM_001375462.1(LPP):c.1066A>G (p.Ile356Val)	LPP (I356V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2614561	NM_001375462.1(LPP):c.1074T>A (p.Asp358Glu)	LPP (D195E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3046026	NM_001375462.1(LPP):c.1087C>T (p.Pro363Ser)	LPP (P200S +1 more)	Single nucleotide variant (missense variant +2 more)	LPP-related condition	GBenign
Select item 756191	NM_001375462.1(LPP):c.1095G>A (p.Ala365=)	LPP	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2530210	NM_001375462.1(LPP):c.1109C>T (p.Pro370Leu)	LPP (P207L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1265274	NM_001375462.1(LPP):c.1113+51T>C	LPP	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1338824	GRCh38/hg38 3q28(chr3:188671476-188811213)	LOC129938140, LPP +1 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 155408	GRCh38/hg38 3q28(chr3:188678746-188713755)x1	LPP, MIR28	Copy number loss	See cases	GUncertain significance
Select item 2220851	NM_001375462.1(LPP):c.1142C>T (p.Ser381Leu)	LPP (S234L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777969	NM_001375462.1(LPP):c.1143G>A (p.Ser381=)	LPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730114	NM_001375462.1(LPP):c.1162C>T (p.Arg388Cys)	LPP (R388C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1277682	NM_001375462.1(LPP):c.1240+75A>G	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290684	NM_001375462.1(LPP):c.1240+249G>A	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265876	NM_001375462.1(LPP):c.1241-311A>G	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2317055	NM_001375462.1(LPP):c.1253G>A (p.Arg418His)	LPP (R271H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286942	NM_001375462.1(LPP):c.1338C>G (p.Ile446Met)	LPP (I299M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374086	NM_001375462.1(LPP):c.1344C>A (p.Asn448Lys)	LPP (N301K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1028399	NM_001375462.1(LPP):c.1354C>T (p.Arg452Ter)	LPP (R289* +2 more)	Single nucleotide variant (nonsense +1 more)	Acute myeloid leukemia +1 more	GConflicting classifications of pathogenicity
Select item 787532	NM_001375462.1(LPP):c.1359G>A (p.Gly453=)	LPP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2618064	NM_001375462.1(LPP):c.1383G>C (p.Lys461Asn)	LPP (K461N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 774441	NM_001375462.1(LPP):c.1395C>T (p.Cys465=)	LPP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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