ClinVar for Gene (Select 4026) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 164

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352448	NM_001375462.1(LPP):c.435C>T (p.Ser145=)	LPP	Single nucleotide variant (synonymous variant +2 more)	LPP-related disorder	GLikely benign
Select item 3350662	NM_001375462.1(LPP):c.735C>G (p.Gly245=)	LPP	Single nucleotide variant (synonymous variant +2 more)	LPP-related disorder	GLikely benign
Select item 3291204	NM_001375462.1(LPP):c.59C>G (p.Pro20Arg)	LPP (P20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291203	NM_001375462.1(LPP):c.752A>G (p.Tyr251Cys)	LPP (Y251C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291202	NM_001375462.1(LPP):c.508C>T (p.Pro170Ser)	LPP (P7S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291201	NM_001375462.1(LPP):c.802C>T (p.Arg268Trp)	LPP (R268W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3119811	NM_001375462.1(LPP):c.671A>T (p.Gln224Leu)	LPP (Q224L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119810	NM_001375462.1(LPP):c.652A>T (p.Arg218Trp)	LPP (R55W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119809	NM_001375462.1(LPP):c.455C>T (p.Pro152Leu)	LPP (P152L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3119808	NM_001375462.1(LPP):c.1807G>A (p.Val603Met)	LPP (V456M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119807	NM_001375462.1(LPP):c.1801A>G (p.Ile601Val)	LPP (I438V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119806	NM_001375462.1(LPP):c.1315G>A (p.Val439Met)	LPP (V276M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119805	NM_001375462.1(LPP):c.1258G>A (p.Gly420Arg)	LPP (G257R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119804	NM_001375462.1(LPP):c.1178T>C (p.Leu393Pro)	LPP (L230P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119802	NM_001375462.1(LPP):c.1115G>A (p.Gly372Asp)	LPP (G209D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062723	GRCh37/hg19 3q28(chr3:187980750-188266575)x1	LPP	Copy number loss	not specified	GUncertain significance
Select item 3058754	NM_001375462.1(LPP):c.906A>G (p.Ala302=)	LPP	Single nucleotide variant (synonymous variant +2 more)	LPP-related disorder	GLikely benign
Select item 3052982	NM_001375462.1(LPP):c.1589+8A>G	LPP	Single nucleotide variant (intron variant)	LPP-related disorder	GLikely benign
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 disorder	GBenign
Select item 3034955	NM_001375462.1(LPP):c.64C>T (p.Arg22Trp)	LPP (R22W)	Single nucleotide variant (missense variant +1 more)	LPP-related disorder	GLikely benign
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 disorder	GLikely benign
Select item 2685947	GRCh37/hg19 3q28(chr3:188478732-188963768)x3	LPP, TPRG1	Copy number gain	not provided	GUncertain significance
Select item 2685946	GRCh37/hg19 3q28(chr3:188392219-188603736)x3	LPP, MIR28	Copy number gain	not provided	GUncertain significance
Select item 2685945	GRCh37/hg19 3q27.3-28(chr3:187857564-188490809)x3	LPP, MIR28	Copy number gain	not provided	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
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 2618064	NM_001375462.1(LPP):c.1383G>C (p.Lys461Asn)	LPP (K461N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615313	NM_001375462.1(LPP):c.944C>A (p.Pro315His)	LPP (P315H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2545620	NM_001375462.1(LPP):c.656C>T (p.Pro219Leu)	LPP (P56L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540976	NM_001375462.1(LPP):c.188G>T (p.Gly63Val)	LPP (G63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531111	NM_001375462.1(LPP):c.533C>G (p.Ser178Cys)	LPP (S178C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530402	NM_001375462.1(LPP):c.922G>A (p.Gly308Arg)	LPP (G308R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530210	NM_001375462.1(LPP):c.1109C>T (p.Pro370Leu)	LPP (P207L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2493220	NM_001375462.1(LPP):c.1592A>C (p.Lys531Thr)	LPP (K384T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485089	NM_001375462.1(LPP):c.299A>C (p.Lys100Thr)	LPP (K100T)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2459051	NM_001375462.1(LPP):c.1043T>A (p.Val348Asp)	LPP (V185D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456254	NM_001375462.1(LPP):c.1507G>A (p.Val503Met)	LPP (V340M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424748	NC_000003.11:g.(?_188118572)_(192126012_?)dup	CCDC50, CLDN1 +13 more	Duplication	not provided	GUncertain significance
Select item 2424746	NC_000003.11:g.(?_188118572)_(192126012_?)del	CCDC50, CLDN1 +13 more	Deletion	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2395158	NM_001375462.1(LPP):c.784T>C (p.Cys262Arg)	LPP (C262R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377404	NM_001375462.1(LPP):c.340C>T (p.Arg114Cys)	LPP (R114C)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2348186	NM_001375462.1(LPP):c.418C>T (p.Arg140Trp)	LPP (R140W)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2317055	NM_001375462.1(LPP):c.1253G>A (p.Arg418His)	LPP (R271H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300552	NM_001375462.1(LPP):c.745C>A (p.Gln249Lys)	LPP (Q249K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295481	NM_001375462.1(LPP):c.467C>T (p.Thr156Ile)	LPP (T156I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287386	NM_001375462.1(LPP):c.32G>A (p.Ser11Asn)	LPP (S11N)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2268018	NM_001375462.1(LPP):c.1646A>G (p.Gln549Arg)	LPP (Q402R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263371	NM_001375462.1(LPP):c.169C>G (p.Pro57Ala)	LPP (P57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260306	NM_001375462.1(LPP):c.631A>G (p.Thr211Ala)	LPP (T48A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2235144	NM_001375462.1(LPP):c.1400C>G (p.Pro467Arg)	LPP (P304R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2220851	NM_001375462.1(LPP):c.1142C>T (p.Ser381Leu)	LPP (S234L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808887	GRCh37/hg19 3q28(chr3:188199479-188298755)x1	LPP	Copy number loss	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1338824	GRCh38/hg38 3q28(chr3:188671476-188811213)	LOC129938140, LPP +1 more	Copy number loss	Diaphragmatic hernia	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 1290684	NM_001375462.1(LPP):c.1240+249G>A	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286252	NM_001375462.1(LPP):c.1410+162G>A	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284064	NM_001375462.1(LPP):c.1410+155C>T	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282245	NM_001375462.1(LPP):c.306+58A>T	LPP	Single nucleotide variant (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 1277682	NM_001375462.1(LPP):c.1240+75A>G	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 1275168	NM_001375462.1(LPP):c.429+130T>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 1269507	NM_001375462.1(LPP):c.1711-143G>A	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269445	NM_001375462.1(LPP):c.193+253C>A	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 1266644	NM_001375462.1(LPP):c.1410+165T>C	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 1265274	NM_001375462.1(LPP):c.1113+51T>C	LPP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1263117	NM_001375462.1(LPP):c.1589+20G>A	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262277	NM_001375462.1(LPP):c.1710+310del	LPP	Deletion (intron variant)	not provided	GBenign
Select item 1261450	NM_001375462.1(LPP):c.1590-73C>T	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261085	NM_001375462.1(LPP):c.1710+112G>A	LPP	Single nucleotide variant (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 1256960	NM_001375462.1(LPP):c.942C>T (p.Asp314=)	LPP	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 1246296	NM_001375462.1(LPP):c.429+106G>T	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243547	NM_001375462.1(LPP):c.1410+157T>C	LPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242675	NM_001375462.1(LPP):c.-9-216_-9-214del	LPP	Deletion (intron variant)	not provided	GBenign
Select item 1237160	NM_001375462.1(LPP):c.429+199dup	LPP	Duplication (intron variant)	not provided	GBenign
Select item 1234700	NM_001375462.1(LPP):c.429+106_429+121del	LPP	Deletion (intron variant)	not provided	GBenign

<< First< Prev

Page of 2