ClinVar for Gene (Select 11315) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	KCNAB2, KIF1B +76 more	Deletion	not provided	GUncertain significance
Select item 3247753	NC_000001.10:g.(?_8037692)_(8045114_?)dup	PARK7	Duplication	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3233830	NM_007262.5(PARK7):c.410delG	PARK7	Deletion (splice acceptor variant)	not specified	GUncertain significance
Select item 3208653	NM_007262.5(PARK7):c.141C>G (p.Ser47Arg)	PARK7 (S47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2919644	NM_007262.5(PARK7):c.273A>C (p.Ile91=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2894413	NM_007262.5(PARK7):c.323-16T>C	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2742576	NM_007262.5(PARK7):c.96G>A (p.Lys32=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2684286	NM_007262.5(PARK7):c.317G>A (p.Cys106Tyr)	PARK7 (C106Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2425758	NC_000001.10:g.(?_7700440)_(8601397_?)dup	ERRFI1, CAMTA1 +7 more	Duplication	not provided	GUncertain significance
Select item 2425707	NC_000001.10:g.(?_8022846)_(8037818_?)del	PARK7	Deletion	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 2413710	NM_007262.5(PARK7):c.322+6G>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2369002	NM_007262.5(PARK7):c.325C>T (p.Pro109Ser)	PARK7 (P109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331855	NM_007262.5(PARK7):c.167C>T (p.Ala56Val)	PARK7 (A56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202695	NM_007262.5(PARK7):c.515T>A (p.Leu172Gln)	PARK7 (L172Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2202253	NM_007262.5(PARK7):c.142C>T (p.Arg48Cys)	PARK7 (R48C)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2159561	NM_007262.5(PARK7):c.300C>T (p.Gly100=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2055014	NM_007262.5(PARK7):c.494C>T (p.Ala165Val)	PARK7 (A165V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2052449	NM_007262.5(PARK7):c.534G>A (p.Ala178=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2049252	NM_007262.5(PARK7):c.103G>A (p.Val35Ile)	PARK7 (V35I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2048361	NM_007262.5(PARK7):c.309C>T (p.Ala103=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2038134	NM_007262.5(PARK7):c.54G>A (p.Glu18=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2035342	NM_007262.5(PARK7):c.252+8A>G	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1988053	NM_007262.5(PARK7):c.91-4G>C	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1984032	NM_007262.5(PARK7):c.323-20C>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1943858	NM_007262.5(PARK7):c.482G>C (p.Ser161Thr)	PARK7 (S161T)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1931055	NM_007262.5(PARK7):c.444dup (p.Asp149fs)	PARK7 (D149fs)	Duplication (frameshift variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1916158	NM_007262.5(PARK7):c.323-10T>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808723	GRCh37/hg19 1p36.23(chr1:7526232-8290521)x1	CAMTA1, ERRFI1 +5 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1711206	NM_007262.5(PARK7):c.433C>A (p.Arg145Ser)	PARK7 (R145S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1684093	NM_007262.5(PARK7):c.252+46dup	PARK7	Duplication (intron variant)	not provided	GLikely benign
Select item 1667228	NM_007262.5(PARK7):c.322+12G>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1649974	NM_007262.5(PARK7):c.409+18TTTG[5]	PARK7	Microsatellite (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1581945	NM_007262.5(PARK7):c.193-13dup	PARK7	Duplication (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GBenign
Select item 1551370	NM_007262.5(PARK7):c.409+18TTTG[3]	PARK7	Microsatellite (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1547969	NM_007262.5(PARK7):c.193-17G>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1535683	NM_007262.5(PARK7):c.252+18A>G	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GBenign
Select item 1519810	NM_007262.5(PARK7):c.328A>G (p.Thr110Ala)	PARK7 (T110A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1510243	NM_007262.5(PARK7):c.198A>G (p.Pro66=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1468432	NM_007262.5(PARK7):c.271A>G (p.Ile91Val)	PARK7 (I91V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1425067	NM_007262.5(PARK7):c.437T>G (p.Val146Gly)	PARK7 (V146G)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1419175	NM_007262.5(PARK7):c.395A>G (p.Lys132Arg)	PARK7 (K132R)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1399835	NM_007262.5(PARK7):c.82C>T (p.Arg28Ter)	PARK7 (R28*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 1365948	NM_007262.5(PARK7):c.233G>A (p.Gly78Asp)	PARK7 (G78D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1338986	NM_007262.5(PARK7):c.253T>C (p.Ser85Pro)	PARK7 (S85P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1334461	NM_007262.5(PARK7):c.377A>G (p.His126Arg)	PARK7 (H126R)	Single nucleotide variant (missense variant)	Motor neuron disease +1 more	GUncertain significance
Select item 1334459	NM_007262.5(PARK7):c.322G>A (p.Gly108Ser)	PARK7 (G108S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 1331350	NM_007262.5(PARK7):c.302T>C (p.Leu101Pro)	PARK7 (L101P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 1319906	NM_007262.5(PARK7):c.83G>A (p.Arg28Gln)	PARK7 (R28Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 1300812	NM_007262.5(PARK7):c.252+80dup	PARK7	Duplication (intron variant)	not provided	GLikely benign
Select item 1296707	NM_007262.5(PARK7):c.-23-70T>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294482	NM_007262.5(PARK7):c.192+331C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289619	NM_007262.5(PARK7):c.-23-50_-23-49del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1287117	NM_007262.5(PARK7):c.409+267_409+276del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1279261	NM_007262.5(PARK7):c.192+238A>C	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276080	NM_007262.5(PARK7):c.193-86A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275885	NM_007262.5(PARK7):c.252+46G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273301	NM_007262.5(PARK7):c.410-49T>C	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268265	NM_007262.5(PARK7):c.323-216G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267442	NM_007262.5(PARK7):c.91-109C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267406	NM_007262.5(PARK7):c.252+45G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267386	NM_007262.5(PARK7):c.252+46del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1266103	NM_007262.5(PARK7):c.322+31G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261949	NM_007262.5(PARK7):c.410-256_410-255del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1261801	NM_007262.5(PARK7):c.409+275_409+276del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1256194	NM_007262.5(PARK7):c.505G>T (p.Val169Phe)	PARK7 (V169F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255080	NM_007262.5(PARK7):c.253-109A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253087	NM_007262.5(PARK7):c.409+274_409+276del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1252441	NM_007262.5(PARK7):c.253-31C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248894	NM_007262.5(PARK7):c.252+45_252+46insA	PARK7	Insertion (intron variant)	not provided	GBenign
Select item 1246972	NM_007262.5(PARK7):c.-24+75_-24+92del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1243450	NM_007262.5(PARK7):c.-24+120G>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241125	NM_007262.5(PARK7):c.-24+344G>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239412	NM_007262.5(PARK7):c.193-149A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238776	NM_007262.5(PARK7):c.252+194del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1234017	NM_007262.5(PARK7):c.-23-4del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1233736	NM_007262.5(PARK7):c.-24+318C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229912	NM_007262.5(PARK7):c.-23-5_-23-4del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1227703	NM_007262.5(PARK7):c.253-98G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227164	NM_007262.5(PARK7):c.252+30T>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221968	NM_007262.5(PARK7):c.323-48A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212406	NM_007262.5(PARK7):c.193-279A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206686	NM_007262.5(PARK7):c.252+45_252+46del	PARK7	Deletion (intron variant)	not provided	GLikely benign
Select item 1186557	NM_007262.5(PARK7):c.252+47A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183743	NM_007262.5(PARK7):c.252+193_252+194del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1182338	NM_007262.5(PARK7):c.410-230C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182033	NM_007262.5(PARK7):c.-23-4dup	PARK7	Duplication (intron variant)	not provided	GBenign
Select item 1180294	NM_007262.5(PARK7):c.410-161G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 1144766	NM_007262.5(PARK7):c.429G>A (p.Glu143=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1119998	NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)	PARK7 (T154A)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease	GLikely pathogenic

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