"GeneDx"[submitter] AND "CLPP"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 1179416	NC_000019.10:g.6361144dup	CLPP	Duplication	not provided	GBenign
Select item 1226568	NC_000019.10:g.6361298A>G	CLPP	Single nucleotide variant	not provided	GBenign
Select item 1188552	NC_000019.10:g.6361331dup	CLPP	Duplication	not provided	GLikely benign
Select item 1250821	NC_000019.10:g.6361331del	CLPP	Deletion	not provided	GBenign
Select item 1296876	NC_000019.10:g.6361326A>T	CLPP	Single nucleotide variant	not provided	GBenign
Select item 1281808	NC_000019.10:g.6361326_6361327insT	CLPP	Insertion	not provided	GBenign
Select item 1277147	NC_000019.10:g.6361330A>T	CLPP	Single nucleotide variant	not provided	GBenign
Select item 1270078	NC_000019.10:g.6361332G>A	CLPP	Single nucleotide variant	not provided	GBenign
Select item 504858	NM_006012.4(CLPP):c.-7_-6insCC	CLPP	Insertion (5 prime UTR variant)	not specified	GLikely benign
Select item 226522	NM_006012.4(CLPP):c.-5G>A	CLPP	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
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 1705010	NM_006012.4(CLPP):c.85C>T (p.Pro29Ser)	CLPP (P29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1220396	NM_006012.4(CLPP):c.117G>A (p.Gln39=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3363805	NM_006012.4(CLPP):c.137G>T (p.Arg46Leu)	CLPP (R46L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442653	NM_006012.4(CLPP):c.148G>A (p.Ala50Thr)	CLPP (A50T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430701	NM_006012.4(CLPP):c.169C>G (p.Pro57Ala)	CLPP (P57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217355	NM_006012.4(CLPP):c.199-31dup	CLPP, LOC130063288	Duplication (intron variant)	Perrault syndrome 3 +1 more	GBenign
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 1240961	NM_006012.4(CLPP):c.270+25C>T	CLPP, LOC130063288	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234535	NM_006012.4(CLPP):c.270+161A>C	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203839	NM_006012.4(CLPP):c.340C>T (p.Pro114Ser)	CLPP (P114S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1189432	NM_006012.4(CLPP):c.367+148G>A	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281955	NM_006012.4(CLPP):c.367+171C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250741	NM_006012.4(CLPP):c.367+234C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250288	NM_006012.4(CLPP):c.368-297G>C	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259551	NM_006012.4(CLPP):c.368-179G>T	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214170	NM_006012.4(CLPP):c.368-173C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219719	NM_006012.4(CLPP):c.368-97G>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254682	NM_006012.4(CLPP):c.368-44C>G	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238178	NM_006012.4(CLPP):c.368-43G>T	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
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 provided +1 more	GBenign/Likely 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 453066	NM_006012.4(CLPP):c.520C>T (p.Arg174Cys)	CLPP (R174C)	Single nucleotide variant (missense variant)	Perrault syndrome 3 +1 more	GUncertain significance
Select item 2682512	NM_006012.4(CLPP):c.533A>G (p.His178Arg)	CLPP (H178R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 226521	NM_006012.4(CLPP):c.555+3G>A	CLPP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1208030	NM_006012.4(CLPP):c.555+16G>A	CLPP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1199883	NM_006012.4(CLPP):c.555+107dup	CLPP	Duplication (intron variant)	not provided	GLikely benign
Select item 1327166	NM_006012.4(CLPP):c.555+106_555+107del	CLPP	Deletion (intron variant)	not provided	GLikely benign
Select item 1288454	NM_006012.4(CLPP):c.555+107del	CLPP	Deletion (intron variant)	not provided	GBenign
Select item 1186663	NM_006012.4(CLPP):c.555+246C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226472	NM_006012.4(CLPP):c.556-295dup	CLPP	Duplication (intron variant)	not provided	GBenign
Select item 1277998	NM_006012.4(CLPP):c.556-295del	CLPP	Deletion (intron variant)	not provided	GBenign
Select item 1204916	NM_006012.4(CLPP):c.556-238_556-235del	CLPP	Deletion (intron variant)	not provided	GLikely benign
Select item 1254972	NM_006012.4(CLPP):c.556-120C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241008	NM_006012.4(CLPP):c.556-43C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280804	NM_006012.4(CLPP):c.556-39A>G	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668246	NM_006012.4(CLPP):c.556-9G>A	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 597224	NM_006012.4(CLPP):c.622A>G (p.Ile208Val)	CLPP (I208V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371870	NM_006012.4(CLPP):c.660C>T (p.Ile220=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1300498	NM_006012.4(CLPP):c.661+41C>T	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178222	NM_006012.4(CLPP):c.661+107G>A	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180293	NM_006012.4(CLPP):c.661+119G>A	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193096	NM_006012.4(CLPP):c.661+290T>G	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199033	NM_006012.4(CLPP):c.662-305T>C	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288154	NM_006012.4(CLPP):c.662-301T>G	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188472	NM_006012.4(CLPP):c.662-278G>A	CLPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238231	NM_006012.4(CLPP):c.662-274G>A	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245145	NM_006012.4(CLPP):c.662-163T>C	CLPP	Single nucleotide variant (intron variant)	not provided	GBenign
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 3253370	NM_006012.4(CLPP):c.754G>A (p.Gly252Ser)	CLPP (G252S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226523	NM_006012.4(CLPP):c.801G>A (p.Ala267=)	CLPP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1200180	NM_006012.4(CLPP):c.*41G>A	CLPP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1179682	NM_006012.4(CLPP):c.*153C>G	CLPP	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1215429	NM_006012.4(CLPP):c.*234G>A	CLPP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3359469	NM_006012.4(CLPP):c.70C>T (p.Leu24Phe)	CLPP (L24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 72