8192[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +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 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 3068435	NM_006012.2(CLPP):c.-995_270+222del	CLPP, LOC130063288	Deletion	Perrault syndrome 3	GLikely pathogenic
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 1339862	NM_006012.4(CLPP):c.1A>G (p.Met1Val)	CLPP (M1V)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 3	Gnot provided
Select item 1356365	NM_006012.4(CLPP):c.12_33dup (p.Val12fs)	CLPP (V12fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2483916	NM_006012.4(CLPP):c.11G>A (p.Gly4Glu)	CLPP (G4E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2285932	NM_006012.4(CLPP):c.31C>T (p.Arg11Trp)	CLPP (R11W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1705010	NM_006012.4(CLPP):c.85C>T (p.Pro29Ser)	CLPP (P29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2467457	NM_006012.4(CLPP):c.94C>T (p.Arg32Trp)	CLPP (R32W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2545662	NM_006012.4(CLPP):c.106C>G (p.Arg36Gly)	CLPP (R36G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2558185	NM_006012.4(CLPP):c.121G>A (p.Gly41Ser)	CLPP (G41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 499916	NM_006012.4(CLPP):c.127G>A (p.Ala43Thr)	CLPP (A43T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 505096	NM_006012.4(CLPP):c.153G>A (p.Thr51=)	CLPP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1649486	NM_006012.4(CLPP):c.156G>A (p.Ala52=)	CLPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 500291	NM_006012.4(CLPP):c.173T>G (p.Leu58Arg)	CLPP (L58R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1217355	NM_006012.4(CLPP):c.199-31dup	CLPP, LOC130063288	Duplication (intron variant)	Perrault syndrome 3 +1 more	GBenign
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 813818	NM_006012.4(CLPP):c.233G>C (p.Arg78Pro)	CLPP, LOC130063288 (R78P)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GLikely pathogenic
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 55870	NM_006012.4(CLPP):c.270+4A>G	CLPP, LOC130063288	Single nucleotide variant (intron variant)	Perrault syndrome 3 +1 more	GPathogenic
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 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 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 1332812	NM_006012.4(CLPP):c.299T>C (p.Ile100Thr)	CLPP (I100T)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GLikely pathogenic
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 3029167	NM_006012.4(CLPP):c.355A>G (p.Ile119Val)	CLPP (I119V)	Single nucleotide variant (missense variant)	CLPP-related condition	GUncertain significance
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 2543569	NM_006012.4(CLPP):c.365C>T (p.Pro122Leu)	CLPP (P122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 593703	NM_006012.4(CLPP):c.367+2T>C	CLPP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 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

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