C3554002[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1513248	NM_002857.4(PEX19):c.895_896del (p.Met299fs)	PEX19 (M299fs)	Deletion (3 prime UTR variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1436470	NM_002857.4(PEX19):c.896T>C (p.Met299Thr)	PEX19 (M299T)	Single nucleotide variant (3 prime UTR variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1346893	NM_002857.4(PEX19):c.887G>A (p.Cys296Tyr)	PEX19 (C296Y +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1046358	NM_002857.4(PEX19):c.886T>C (p.Cys296Arg)	PEX19 (C296R)	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1721400	NM_002857.4(PEX19):c.883C>A (p.Gln295Lys)	PEX19 (N277K +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 258820	NM_002857.4(PEX19):c.879T>C (p.Gly293=)	PEX19 (V276A)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 2177777	NM_002857.4(PEX19):c.878G>A (p.Gly293Asp)	PEX19 (G293D +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 597301	NM_002857.4(PEX19):c.878G>C (p.Gly293Ala)	PEX19 (G293A +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +2 more	GUncertain significance
Select item 2057388	NM_002857.4(PEX19):c.869G>C (p.Gly290Ala)	PEX19 (G290A +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1583759	NM_002857.4(PEX19):c.867A>G (p.Pro289=)	PEX19	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1515309	NM_002857.4(PEX19):c.863C>T (p.Pro288Leu)	PEX19 (P288L)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2129756	NM_002857.4(PEX19):c.859G>T (p.Gly287Cys)	PEX19 (G287C)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 598018	NM_002857.4(PEX19):c.858G>A (p.Ser286=)	PEX19	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 595959	NM_002857.4(PEX19):c.857C>G (p.Ser286Trp)	PEX19 (S286W)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger) +2 more	GUncertain significance
Select item 501546	NM_002857.4(PEX19):c.857C>T (p.Ser286Leu)	PEX19 (S286L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 597440	NM_002857.4(PEX19):c.856T>G (p.Ser286Ala)	PEX19 (S286A)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger) +2 more	GUncertain significance
Select item 2112498	NM_002857.4(PEX19):c.854T>C (p.Leu285Pro)	PEX19 (L285P)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 501136	NM_002857.4(PEX19):c.845C>T (p.Ala282Val)	PEX19 (A282V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2822036	NM_002857.4(PEX19):c.843T>C (p.Asp281=)	PEX19	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1055283	NM_002857.4(PEX19):c.842A>G (p.Asp281Gly)	PEX19 (D281G)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2821109	NM_002857.4(PEX19):c.825C>T (p.Gly275=)	PEX19	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1418134	NM_002857.4(PEX19):c.817C>A (p.Pro273Thr)	PEX19 (P273T)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 2850007	NM_002857.4(PEX19):c.817-6C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1499740	NM_002857.4(PEX19):c.817-9C>A	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1574349	NM_002857.4(PEX19):c.817-13A>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2798859	NM_002857.4(PEX19):c.817-18C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1626012	NM_002857.4(PEX19):c.817-19C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2849881	NM_002857.4(PEX19):c.816+20C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1619676	NM_002857.4(PEX19):c.816+15T>C	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1092400	NM_002857.4(PEX19):c.816+14A>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1659044	NM_002857.4(PEX19):c.816+13T>A	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 724753	NM_002857.4(PEX19):c.816+7A>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1423326	NM_002857.4(PEX19):c.808G>A (p.Gly270Arg)	PEX19 (G270R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1381296	NM_002857.4(PEX19):c.788A>G (p.His263Arg)	PEX19 (H263R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1153934	NM_002857.4(PEX19):c.786C>T (p.Gly262=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2047787	NM_002857.4(PEX19):c.784G>A (p.Gly262Ser)	PEX19 (G262S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1612422	NM_002857.4(PEX19):c.783A>G (p.Leu261=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GLikely benign
Select item 1975948	NM_002857.4(PEX19):c.779A>G (p.Asp260Gly)	PEX19 (D260G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1574641	NM_002857.4(PEX19):c.774A>G (p.Leu258=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1042968	NM_002857.4(PEX19):c.772C>G (p.Leu258Val)	PEX19 (L258V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 3003535	NM_002857.4(PEX19):c.772-4C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1656063	NM_002857.4(PEX19):c.772-7T>C	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1110423	NM_002857.4(PEX19):c.772-8T>C	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1658380	NM_002857.4(PEX19):c.772-9del	PEX19	Deletion (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 3009085	NM_002857.4(PEX19):c.772-12C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1084377	NM_002857.4(PEX19):c.771+18C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1598544	NM_002857.4(PEX19):c.771+12T>A	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1445449	NM_002857.4(PEX19):c.771+5G>A	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 282033	NM_002857.4(PEX19):c.771+3A>G	PEX19	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 9217	NM_002857.4(PEX19):c.763dup (p.Met255fs)	PEX19 (M255fs)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2119875	NM_002857.4(PEX19):c.759T>A (p.Asp253Glu)	PEX19 (D253E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1986579	NM_002857.4(PEX19):c.754C>A (p.Leu252Met)	PEX19 (L252M)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1989741	NM_002857.4(PEX19):c.751G>A (p.Val251Met)	PEX19 (V251M)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2126753	NM_002857.4(PEX19):c.744T>A (p.Phe248Leu)	PEX19 (F248L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1416034	NM_002857.4(PEX19):c.744T>G (p.Phe248Leu)	PEX19 (F248L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2717414	NM_002857.4(PEX19):c.740G>A (p.Arg247His)	PEX19 (R247H)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 1158078	NM_002857.4(PEX19):c.735G>A (p.Lys245=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 596901	NM_002857.4(PEX19):c.726C>T (p.Thr242=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2845720	NM_002857.4(PEX19):c.713C>A (p.Thr238Lys)	PEX19 (T238K)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2103736	NM_002857.4(PEX19):c.708C>T (p.Thr236=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1364741	NM_002857.4(PEX19):c.706A>G (p.Thr236Ala)	PEX19 (T236A)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 593500	NM_002857.4(PEX19):c.703_704delinsAT (p.Glu235Met)	PEX19 (E235M)	Indel (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 1058958	NM_002857.4(PEX19):c.700G>T (p.Ala234Ser)	PEX19 (A234S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 1925373	NM_002857.4(PEX19):c.699G>T (p.Glu233Asp)	PEX19 (E233D)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1521525	NM_002857.4(PEX19):c.696T>A (p.Phe232Leu)	PEX19 (F232L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1417133	NM_002857.4(PEX19):c.694T>G (p.Phe232Val)	PEX19 (F232V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1929891	NM_002857.4(PEX19):c.692A>G (p.Gln231Arg)	PEX19 (Q231R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 726621	NM_002857.4(PEX19):c.690G>A (p.Glu230=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2075792	NM_002857.4(PEX19):c.679A>G (p.Lys227Glu)	PEX19 (K227E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 501619	NM_002857.4(PEX19):c.670G>A (p.Val224Ile)	PEX19 (V224I)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 498703	NM_002857.4(PEX19):c.669C>T (p.Ser223=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 860421	NM_002857.4(PEX19):c.667A>G (p.Ser223Gly)	PEX19 (S223G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 2109507	NM_002857.4(PEX19):c.661C>G (p.Gln221Glu)	PEX19 (Q221E)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2772250	NM_002857.4(PEX19):c.654T>C (p.Tyr218=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1362231	NM_002857.4(PEX19):c.644T>C (p.Phe215Ser)	PEX19 (F215S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1716802	NM_002857.4(PEX19):c.634C>A (p.Pro212Thr)	PEX19 (P212T)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 3007362	NM_002857.4(PEX19):c.633T>C (p.Pro211=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1589892	NM_002857.4(PEX19):c.630A>G (p.Leu210=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 293226	NM_002857.4(PEX19):c.630A>C (p.Leu210=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 1447773	NM_002857.4(PEX19):c.629T>C (p.Leu210Pro)	PEX19 (L210P)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1927537	NM_002857.4(PEX19):c.627T>C (p.Ser209=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1461912	NM_002857.4(PEX19):c.621G>A (p.Arg207=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1014701	NM_002857.4(PEX19):c.619C>G (p.Arg207Gly)	PEX19 (R207G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 999099	NM_002857.4(PEX19):c.619C>T (p.Arg207Trp)	PEX19 (R207W)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1421630	NM_002857.4(PEX19):c.617A>G (p.His206Arg)	PEX19 (H206R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1394409	NM_002857.4(PEX19):c.617A>T (p.His206Leu)	PEX19 (H206L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 1501086	NM_002857.4(PEX19):c.615T>A (p.Ser205Arg)	PEX19 (S205R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 2126108	NM_002857.4(PEX19):c.600A>G (p.Pro200=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1571355	NM_002857.4(PEX19):c.595-14CT[2]	PEX19	Microsatellite (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1560853	NM_002857.4(PEX19):c.595-12C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1637490	NM_002857.4(PEX19):c.595-17A>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1613700	NM_002857.4(PEX19):c.595-18C>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1660479	NM_002857.4(PEX19):c.595-19C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2706603	NM_002857.4(PEX19):c.595-20C>T	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2048155	NM_002857.4(PEX19):c.594+15A>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1128389	NM_002857.4(PEX19):c.594+11T>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 1630619	NM_002857.4(PEX19):c.594+9A>G	PEX19	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign
Select item 2806573	NM_002857.4(PEX19):c.594+1G>C	PEX19	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely pathogenic
Select item 956016	NM_002857.4(PEX19):c.594G>C (p.Lys198Asn)	PEX19 (K198N)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GUncertain significance
Select item 743616	NM_002857.4(PEX19):c.582G>A (p.Glu194=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger)	GLikely benign

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