"Invitae"[submitter] AND "CLPP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1356365	NM_006012.4(CLPP):c.12_33dup (p.Val12fs)	CLPP (V12fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 517633	NM_006012.4(CLPP):c.15A>G (p.Ile5Met)	CLPP (I5M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2704979	NM_006012.4(CLPP):c.18G>A (p.Leu6=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138190	NM_006012.4(CLPP):c.21del (p.Ala10fs)	CLPP (A10fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1955444	NM_006012.4(CLPP):c.21A>G (p.Val7=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197967	NM_006012.4(CLPP):c.23G>C (p.Gly8Ala)	CLPP (G8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370265	NM_006012.4(CLPP):c.23G>T (p.Gly8Val)	CLPP (G8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301278	NM_006012.4(CLPP):c.28G>T (p.Ala10Ser)	CLPP (A10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803648	NM_006012.4(CLPP):c.29C>G (p.Ala10Gly)	CLPP (A10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788196	NM_006012.4(CLPP):c.30C>G (p.Ala10=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926082	NM_006012.4(CLPP):c.33G>A (p.Arg11=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974191	NM_006012.4(CLPP):c.39G>T (p.Ala13=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1120114	NM_006012.4(CLPP):c.39G>A (p.Ala13=)	CLPP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 517329	NM_006012.4(CLPP):c.42A>C (p.Ser14=)	CLPP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1942387	NM_006012.4(CLPP):c.43T>C (p.Cys15Arg)	CLPP (C15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967215	NM_006012.4(CLPP):c.60G>A (p.Leu20=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973126	NM_006012.4(CLPP):c.93G>T (p.Gln31His)	CLPP (Q31H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069662	NM_006012.4(CLPP):c.99G>A (p.Pro33=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 505534	NM_006012.4(CLPP):c.100C>T (p.Pro34Ser)	CLPP (P34S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1948054	NM_006012.4(CLPP):c.101C>T (p.Pro34Leu)	CLPP (P34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220396	NM_006012.4(CLPP):c.117G>A (p.Gln39=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1478498	NM_006012.4(CLPP):c.121G>C (p.Gly41Arg)	CLPP (G41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649486	NM_006012.4(CLPP):c.156G>A (p.Ala52=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998987	NM_006012.4(CLPP):c.182T>C (p.Ile61Thr)	CLPP (I61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903770	NM_006012.4(CLPP):c.198+11C>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667841	NM_006012.4(CLPP):c.199-16A>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549013	NM_006012.4(CLPP):c.199-16A>G	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528990	NM_006012.4(CLPP):c.199-15T>C	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967186	NM_006012.4(CLPP):c.199-11T>G	LOC130063288, CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954114	NM_006012.4(CLPP):c.199-9T>A	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982593	NM_006012.4(CLPP):c.199-4C>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171411	NM_006012.4(CLPP):c.199-1G>C	CLPP, LOC130063288	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1557838	NM_006012.4(CLPP):c.201T>C (p.Gly67=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559365	NM_006012.4(CLPP):c.216C>T (p.Ala72=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1470208	NM_006012.4(CLPP):c.218A>G (p.Tyr73Cys)	CLPP, LOC130063288 (Y73C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747360	NM_006012.4(CLPP):c.225C>T (p.Ile75=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534791	NM_006012.4(CLPP):c.234G>A (p.Arg78=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551026	NM_006012.4(CLPP):c.240G>A (p.Leu80=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813266	NM_006012.4(CLPP):c.252C>T (p.Ile84=)	CLPP, LOC130063288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534245	NM_006012.4(CLPP):c.270+11C>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977449	NM_006012.4(CLPP):c.270+12G>C	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974759	NM_006012.4(CLPP):c.270+15C>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626111	NM_006012.4(CLPP):c.271-10C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 721645	NM_006012.4(CLPP):c.271-8A>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977777	NM_006012.4(CLPP):c.273C>T (p.Ile91=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748407	NM_006012.4(CLPP):c.282C>T (p.Ser94=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902384	NM_006012.4(CLPP):c.300C>T (p.Ile100=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 227254	NM_006012.4(CLPP):c.306G>A (p.Gln102=)	CLPP	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2712961	NM_006012.4(CLPP):c.315C>T (p.Phe105=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180024	NM_006012.4(CLPP):c.321A>G (p.Gln107=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1203839	NM_006012.4(CLPP):c.340C>T (p.Pro114Ser)	CLPP (P114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2756337	NM_006012.4(CLPP):c.360C>T (p.Asn120=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991077	NM_006012.4(CLPP):c.363C>T (p.Ser121=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023518	NM_006012.4(CLPP):c.367+16C>G	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907924	NM_006012.4(CLPP):c.367+17C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226518	NM_006012.4(CLPP):c.368-10C>T	CLPP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 226519	NM_006012.4(CLPP):c.368-8G>A	CLPP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 723455	NM_006012.4(CLPP):c.369T>C (p.Gly123=)	CLPP	Single nucleotide variant (synonymous variant)	CLPP-related condition +1 more	GLikely benign
Select item 2908079	NM_006012.4(CLPP):c.372T>C (p.Gly124=)	CLPP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2414346	NM_006012.4(CLPP):c.381C>T (p.Thr127=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352017	NM_006012.4(CLPP):c.382G>A (p.Ala128Thr)	CLPP (A128T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444985	NM_006012.4(CLPP):c.384G>A (p.Ala128=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1195668	NM_006012.4(CLPP):c.384G>T (p.Ala128=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769951	NM_006012.4(CLPP):c.399C>T (p.Tyr133=)	CLPP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 226520	NM_006012.4(CLPP):c.405G>A (p.Thr135=)	CLPP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2998411	NM_006012.4(CLPP):c.441C>T (p.Cys147=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 500689	NM_006012.4(CLPP):c.442G>A (p.Val148Met)	CLPP (V148M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1605689	NM_006012.4(CLPP):c.480C>T (p.Ala160=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1411562	NM_006012.4(CLPP):c.491del (p.Pro164fs)	CLPP (P164fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1548781	NM_006012.4(CLPP):c.507G>A (p.Ser169=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976906	NM_006012.4(CLPP):c.513C>A (p.Pro171=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013256	NM_006012.4(CLPP):c.521G>A (p.Arg174His)	CLPP (R174H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401427	NM_006012.4(CLPP):c.549C>T (p.Gly183=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929972	NM_006012.4(CLPP):c.553C>T (p.Arg185Trp)	CLPP (R185W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226521	NM_006012.4(CLPP):c.555+3G>A	CLPP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1951487	NM_006012.4(CLPP):c.555+9C>G	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 227255	NM_006012.4(CLPP):c.555+15C>T	CLPP	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1208030	NM_006012.4(CLPP):c.555+16G>A	CLPP	Single nucleotide variant (intron variant)	Perrault syndrome 3 +1 more	GBenign/Likely benign
Select item 1948005	NM_006012.4(CLPP):c.555+17C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1657885	NM_006012.4(CLPP):c.555+18G>A	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668246	NM_006012.4(CLPP):c.556-9G>A	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809585	NM_006012.4(CLPP):c.556-7C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965912	NM_006012.4(CLPP):c.573T>C (p.Ile191=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031987	NM_006012.4(CLPP):c.585_586insAT (p.Glu196fs)	CLPP (E196fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1935134	NM_006012.4(CLPP):c.595A>G (p.Met199Val)	CLPP (M199V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981545	NM_006012.4(CLPP):c.617A>G (p.Tyr206Cys)	CLPP (Y206C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716761	NM_006012.4(CLPP):c.627C>T (p.Tyr209=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138191	NM_006012.4(CLPP):c.661G>A (p.Glu221Lys)	CLPP (E221K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2031295	NM_006012.4(CLPP):c.661+11T>G	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534540	NM_006012.4(CLPP):c.662-18C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1405164	NM_006012.4(CLPP):c.662-3C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 717397	NM_006012.4(CLPP):c.666C>T (p.Ser222=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504859	NM_006012.4(CLPP):c.667G>A (p.Ala223Thr)	CLPP (A223T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1902739	NM_006012.4(CLPP):c.683G>A (p.Arg228His)	CLPP (R228H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902153	NM_006012.4(CLPP):c.687C>T (p.Tyr229=)	CLPP	Single nucleotide variant (synonymous variant)	CLPP-related condition +1 more	GLikely benign
Select item 1916981	NM_006012.4(CLPP):c.697A>G (p.Met233Val)	CLPP (M233V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924796	NM_006012.4(CLPP):c.708G>A (p.Gln236=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180155	NM_006012.4(CLPP):c.711G>A (p.Glu237=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969231	NM_006012.4(CLPP):c.720C>G (p.Ile240Met)	CLPP (I240M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924847	NM_006012.4(CLPP):c.726C>T (p.Asp242=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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