25793[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 1217748	NC_000022.11:g.32474434G>A	FBXO7	Single nucleotide variant	not provided	GLikely benign
Select item 1238443	NC_000022.11:g.32474587A>G	FBXO7	Single nucleotide variant	not provided	GBenign
Select item 1211468	NC_000022.11:g.32474600T>C	FBXO7	Single nucleotide variant	not provided	GLikely benign
Select item 1288321	NC_000022.11:g.32474674C>T	FBXO7	Single nucleotide variant	not provided	GBenign
Select item 341297	NM_012179.3(FBXO7):c.-268C>G	FBXO7	Single nucleotide variant	Parkinson Disease, Recessive	GUncertain significance
Select item 341298	NM_012179.3(FBXO7):c.-232G>C	FBXO7	Single nucleotide variant	Parkinson Disease, Recessive	GUncertain significance
Select item 341299	NM_012179.3(FBXO7):c.-221C>T	FBXO7	Single nucleotide variant	Parkinson Disease, Recessive +1 more	GBenign
Select item 341300	NM_012179.3(FBXO7):c.-200G>A	FBXO7	Single nucleotide variant	Parkinson Disease, Recessive	GUncertain significance
Select item 341301	NM_012179.3(FBXO7):c.-197C>T	FBXO7	Single nucleotide variant	Parkinson Disease, Recessive	GUncertain significance
Select item 341302	NM_012179.4(FBXO7):c.-184C>T	FBXO7	Single nucleotide variant (5 prime UTR variant)	Parkinsonian-pyramidal syndrome +1 more	GBenign
Select item 341303	NM_012179.4(FBXO7):c.-168A>G	FBXO7	Single nucleotide variant (5 prime UTR variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 901044	NM_012179.4(FBXO7):c.-130C>T	FBXO7	Single nucleotide variant (5 prime UTR variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 341304	NM_012179.4(FBXO7):c.-118T>G	FBXO7	Single nucleotide variant (5 prime UTR variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 901045	NM_012179.4(FBXO7):c.-97C>T	FBXO7	Single nucleotide variant (5 prime UTR variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 341305	NM_012179.4(FBXO7):c.-93G>A	FBXO7	Single nucleotide variant (5 prime UTR variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2887235	NM_012179.4(FBXO7):c.1A>C (p.Met1Leu)	FBXO7 (M1L)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2751170	NM_012179.4(FBXO7):c.1A>G (p.Met1Val)	FBXO7 (M1V)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2960687	NM_012179.4(FBXO7):c.2T>A (p.Met1Lys)	FBXO7 (M1K)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2916108	NM_012179.4(FBXO7):c.2T>G (p.Met1Arg)	FBXO7 (M1R)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2653087	NM_012179.4(FBXO7):c.4A>C (p.Arg2=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome +1 more	GLikely benign
Select item 3093805	NM_012179.4(FBXO7):c.19C>G (p.Leu7Val)	FBXO7 (L7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093806	NM_012179.4(FBXO7):c.29G>A (p.Arg10Gln)	FBXO7 (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2719417	NM_012179.4(FBXO7):c.30G>A (p.Arg10=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 934590	NM_012179.4(FBXO7):c.32C>T (p.Thr11Ile)	FBXO7 (T11I)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2892454	NM_012179.4(FBXO7):c.33C>G (p.Thr11=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2747088	NM_012179.4(FBXO7):c.33C>T (p.Thr11=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2722336	NM_012179.4(FBXO7):c.40C>T (p.Leu14=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3093807	NM_012179.4(FBXO7):c.41T>G (p.Leu14Arg)	FBXO7 (L14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920268	NM_012179.4(FBXO7):c.45G>A (p.Glu15=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2722124	NM_012179.4(FBXO7):c.48G>A (p.Val16=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 341306	NM_012179.4(FBXO7):c.49C>G (p.Pro17Ala)	FBXO7 (P17A)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2585291	NM_012179.4(FBXO7):c.52G>A (p.Glu18Lys)	FBXO7 (E18K)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 4811	NM_012179.4(FBXO7):c.65C>T (p.Thr22Met)	FBXO7 (T22M)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2912231	NM_012179.4(FBXO7):c.72G>A (p.Gly24=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2964444	NM_012179.4(FBXO7):c.84G>A (p.Ser28=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2985331	NM_012179.4(FBXO7):c.90G>A (p.Leu30=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2728070	NM_012179.4(FBXO7):c.100C>T (p.Leu34=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 1667967	NM_012179.4(FBXO7):c.110C>G (p.Thr37Ser)	FBXO7 (T37S)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 1478274	NM_012179.4(FBXO7):c.114G>C (p.Trp38Cys)	FBXO7 (W38C)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2739304	NM_012179.4(FBXO7):c.117G>T (p.Gly39=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2693883	NM_012179.4(FBXO7):c.120C>T (p.Tyr40=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2093784	NM_012179.4(FBXO7):c.122+3A>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2795172	NM_012179.4(FBXO7):c.122+7dup	FBXO7	Duplication (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 341307	NM_012179.4(FBXO7):c.122+9G>A	FBXO7	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2711493	NM_012179.4(FBXO7):c.122+10G>T	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2726677	NM_012179.4(FBXO7):c.122+13C>T	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2769475	NM_012179.4(FBXO7):c.122+14G>C	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2797382	NM_012179.4(FBXO7):c.122+16G>A	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2994368	NM_012179.4(FBXO7):c.122+17G>A	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 1256791	NM_012179.4(FBXO7):c.122+116C>T	FBXO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223931	NM_012179.4(FBXO7):c.122+119G>T	FBXO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3033374	NM_012179.4(FBXO7):c.122+245G>A	FBXO7 (R3Q)	Single nucleotide variant (missense variant +2 more)	FBXO7-related disorder	GLikely benign
Select item 1244096	NM_012179.4(FBXO7):c.122+254G>A	FBXO7 (G6E)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 518326	NM_012179.4(FBXO7):c.122+272T>G	FBXO7 (L12R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1230871	NM_012179.4(FBXO7):c.122+331C>A	FBXO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198502	NM_012179.4(FBXO7):c.122+343C>G	FBXO7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219688	NM_012179.4(FBXO7):c.122+382G>A	FBXO7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191391	NM_012179.4(FBXO7):c.122+555A>G	FBXO7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851573	NM_012179.4(FBXO7):c.123-20T>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2697606	NM_012179.4(FBXO7):c.123-20T>C	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2826879	NM_012179.4(FBXO7):c.123-12C>T	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 1144336	NM_012179.4(FBXO7):c.123-10T>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2202162	NM_012179.4(FBXO7):c.127A>G (p.Asn43Asp)	FBXO7 (N43D)	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2635086	NM_012179.4(FBXO7):c.131C>A (p.Thr44Asn)	FBXO7 (T44N)	Single nucleotide variant (5 prime UTR variant +2 more)	FBXO7-related disorder	GUncertain significance
Select item 2661902	NM_012179.4(FBXO7):c.133C>T (p.Arg45Ter)	FBXO7 (R45*)	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2741639	NM_012179.4(FBXO7):c.135A>G (p.Arg45=)	FBXO7	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2683566	NM_012179.4(FBXO7):c.146C>A (p.Thr49Lys)	FBXO7 (T49K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 488517	NM_012179.4(FBXO7):c.152del (p.Asn51fs)	FBXO7 (N51fs)	Deletion (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 901597	NM_012179.4(FBXO7):c.155A>G (p.Tyr52Cys)	FBXO7 (Y52C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2878791	NM_012179.4(FBXO7):c.156C>T (p.Tyr52=)	FBXO7	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2725775	NM_012179.4(FBXO7):c.156C>G (p.Tyr52Ter)	FBXO7 (Y52*)	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 640301	NM_012179.4(FBXO7):c.169A>G (p.Thr57Ala)	FBXO7 (T57A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2766295	NM_012179.4(FBXO7):c.174A>C (p.Gly58=)	FBXO7	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 1970594	NM_012179.4(FBXO7):c.185C>A (p.Thr62Asn)	FBXO7 (T62N)	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2037049	NM_012179.4(FBXO7):c.195A>G (p.Ser65=)	FBXO7	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 704085	NM_012179.4(FBXO7):c.213G>A (p.Gly71=)	FBXO7	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2897940	NM_012179.4(FBXO7):c.249A>G (p.Pro83=)	FBXO7	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2202665	NM_012179.4(FBXO7):c.251C>T (p.Ala84Val)	FBXO7 (A84V)	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2721916	NM_012179.4(FBXO7):c.252G>A (p.Ala84=)	FBXO7	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2045619	NM_012179.4(FBXO7):c.256A>G (p.Asn86Asp)	FBXO7 (N86D)	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 225358	NM_012179.4(FBXO7):c.260T>C (p.Ile87Thr)	FBXO7 (I87T)	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2150213	NM_012179.4(FBXO7):c.269_270del (p.Ser90fs)	FBXO7 (S90fs)	Deletion (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 341308	NM_012179.4(FBXO7):c.274G>C (p.Asp92His)	FBXO7 (D92H)	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome +1 more	GUncertain significance
Select item 901598	NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)	FBXO7 (S93A +1 more)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GConflicting classifications of pathogenicity
Select item 1464858	NM_012179.4(FBXO7):c.284A>T (p.His95Leu)	FBXO7 (H95L +1 more)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 705692	NM_012179.4(FBXO7):c.291A>C (p.Ser97=)	FBXO7	Single nucleotide variant (synonymous variant +1 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 771234	NM_012179.4(FBXO7):c.303T>C (p.Asn101=)	FBXO7	Single nucleotide variant (synonymous variant +1 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 1546560	NM_012179.4(FBXO7):c.306G>A (p.Glu102=)	FBXO7	Single nucleotide variant (synonymous variant +1 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2830552	NM_012179.4(FBXO7):c.316_317del (p.Leu106fs)	FBXO7 (L106fs +1 more)	Deletion (frameshift variant +1 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 716472	NM_012179.4(FBXO7):c.319G>A (p.Ala107Thr)	FBXO7 (A28T +1 more)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2077706	NM_012179.4(FBXO7):c.330C>T (p.Ser110=)	FBXO7	Single nucleotide variant (synonymous variant +1 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2907634	NM_012179.4(FBXO7):c.345G>C (p.Met115Ile)	FBXO7 (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 195275	NM_012179.4(FBXO7):c.345G>A (p.Met115Ile)	FBXO7 (M115I +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome +2 more	GBenign
Select item 1969046	NM_012179.4(FBXO7):c.349G>T (p.Asp117Tyr)	FBXO7 (D38Y +2 more)	Single nucleotide variant (missense variant)	Parkinsonian-pyramidal syndrome	GUncertain significance
Select item 2895976	NM_012179.4(FBXO7):c.354A>G (p.Glu118=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign

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