22880[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 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 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 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	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 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
Select item 1197030	NM_001303256.3(MORC2):c.*57G>T	MORC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1701728	NM_001303256.3(MORC2):c.3094G>T (p.Asp1032Tyr)	MORC2 (D1029Y +2 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	GUncertain significance
Select item 2859354	NM_001303256.3(MORC2):c.3082A>G (p.Ile1028Val)	MORC2 (I1028V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1154980	NM_001303256.3(MORC2):c.3081C>T (p.Leu1027=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 475594	NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1151973	NM_001303256.3(MORC2):c.3066C>G (p.Ala1022=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 2873794	NM_001303256.3(MORC2):c.3064G>A (p.Ala1022Thr)	MORC2 (A1019T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 475593	NM_001303256.3(MORC2):c.3063C>T (p.Asp1021=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 2103006	NM_001303256.3(MORC2):c.3046A>G (p.Thr1016Ala)	MORC2 (T1013A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1802195	NM_001303256.3(MORC2):c.3031G>A (p.Asp1011Asn)	MORC2 (D1008N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GLikely pathogenic
Select item 750837	NM_001303256.3(MORC2):c.3031-4C>G	MORC2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1988307	NM_001303256.3(MORC2):c.3031-9C>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1556043	NM_001303256.3(MORC2):c.3031-9C>G	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1990682	NM_001303256.3(MORC2):c.3031-15C>A	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 2891352	NM_001303256.3(MORC2):c.3031-19C>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1239818	NM_001303256.3(MORC2):c.3031-193G>T	MORC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233916	NM_001303256.3(MORC2):c.3030+222C>T	MORC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245669	NM_001303256.3(MORC2):c.3030+106C>G	MORC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2861762	NM_001303256.3(MORC2):c.3030+19C>G	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1110419	NM_001303256.3(MORC2):c.3030+9_3030+10delinsTT	MORC2	Indel (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 772516	NM_001303256.3(MORC2):c.3030+9G>C	MORC2	Single nucleotide variant (intron variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +2 more	GBenign
Select item 731497	NM_001303256.3(MORC2):c.3030+8C>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 731197	NM_001303256.3(MORC2):c.3030+7C>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 652067	NM_001303256.3(MORC2):c.3030+6C>G	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1040910	NM_001303256.3(MORC2):c.3028G>C (p.Glu1010Gln)	MORC2 (E1010Q +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2101834	NM_001303256.3(MORC2):c.3024G>A (p.Val1008=)	MORC2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 475592	NM_001303256.3(MORC2):c.3015G>C (p.Leu1005=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 2856706	NM_001303256.3(MORC2):c.3008C>T (p.Ala1003Val)	MORC2 (A941V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2014966	NM_001303256.3(MORC2):c.3007G>A (p.Ala1003Thr)	MORC2 (A1003T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 964245	NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met)	MORC2 (V940M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1907165	NM_001303256.3(MORC2):c.3003C>T (p.Ile1001=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 2692586	NM_001303256.3(MORC2):c.2998A>G (p.Asn1000Asp)	MORC2 (N938D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 704475	NM_001303256.3(MORC2):c.2989C>T (p.Leu997=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GBenign
Select item 1315850	NM_001303256.3(MORC2):c.2986A>T (p.Lys996Ter)	MORC2 (K934* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 861562	NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del)	MORC2	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 450811	NM_001303256.3(MORC2):c.2971GAG[1] (p.Glu992del)	MORC2 (E992del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 716265	NM_001303256.3(MORC2):c.2970G>A (p.Thr990=)	MORC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 642427	NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)	MORC2 (T990M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2920252	NM_001303256.3(MORC2):c.2968A>C (p.Thr990Pro)	MORC2 (T928P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1099351	NM_001303256.3(MORC2):c.2964C>T (p.Arg988=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1431916	NM_001303256.3(MORC2):c.2963G>A (p.Arg988His)	MORC2 (R988H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GUncertain significance
Select item 1389404	NM_001303256.3(MORC2):c.2962C>T (p.Arg988Cys)	MORC2 (R926C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1991968	NM_001303256.3(MORC2):c.2952G>A (p.Glu984=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 2910880	NM_001303256.3(MORC2):c.2950G>A (p.Glu984Lys)	MORC2 (E922K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 475591	NM_001303256.3(MORC2):c.2949C>T (p.Ser983=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 475590	NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala)	MORC2 (T920A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 969575	NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys)	MORC2 (R919C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 745986	NM_001303256.3(MORC2):c.2928C>T (p.Ser976=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 2505060	NM_001303256.3(MORC2):c.2924C>A (p.Ala975Asp)	MORC2 (A913D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320968	NM_001303256.3(MORC2):c.2921A>T (p.Lys974Met)	MORC2 (K912M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434144	NM_001303256.3(MORC2):c.2915G>A (p.Arg972Gln)	MORC2 (R972Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 475589	NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp)	MORC2 (R910W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2789248	NM_001303256.3(MORC2):c.2912C>T (p.Ser971Phe)	MORC2 (S909F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2712647	NM_001303256.3(MORC2):c.2907T>C (p.Ala969=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1426101	NM_001303256.3(MORC2):c.2903G>A (p.Arg968His)	MORC2 (R906H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2154463	NM_001303256.3(MORC2):c.2902C>T (p.Arg968Cys)	MORC2 (R906C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2683564	NM_001303256.3(MORC2):c.2896C>T (p.Gln966Ter)	MORC2 (Q904* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 546914	NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser)	MORC2 (N963S +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait +3 more	GConflicting classifications of pathogenicity
Select item 852083	NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys)	MORC2 (N960K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +1 more	GUncertain significance
Select item 2908486	NM_001303256.3(MORC2):c.2852T>G (p.Phe951Cys)	MORC2 (F889C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2192192	NM_001303256.3(MORC2):c.2850C>T (p.Tyr950=)	MORC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1607087	NM_001303256.3(MORC2):c.2847G>A (p.Glu949=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 2104029	NM_001303256.3(MORC2):c.2842-13C>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1186735	NM_001303256.3(MORC2):c.2841+233C>G	MORC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205232	NM_001303256.3(MORC2):c.2841+20C>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z +2 more	GBenign/Likely benign
Select item 2696912	NM_001303256.3(MORC2):c.2841+19T>C	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1656590	NM_001303256.3(MORC2):c.2841+18T>A	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1796684	NM_001303256.3(MORC2):c.2839C>G (p.Leu947Val)	MORC2 (L947V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200986	NM_001303256.3(MORC2):c.2827A>G (p.Ile943Val)	MORC2 (I881V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1379838	NM_001303256.3(MORC2):c.2813A>G (p.Asn938Ser)	MORC2 (N876S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1712050	NM_001303256.3(MORC2):c.2810T>C (p.Met937Thr)	MORC2 (M875T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774026	NM_001303256.3(MORC2):c.2802G>T (p.Leu934=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1346259	NM_001303256.3(MORC2):c.2798A>C (p.Gln933Pro)	MORC2 (Q871P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 950945	NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn)	MORC2 (K932N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 694956	NM_001303256.3(MORC2):c.2795del (p.Lys932fs)	MORC2 (K932fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2054140	NM_001303256.3(MORC2):c.2779T>C (p.Phe927Leu)	MORC2 (F865L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 640804	NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)	MORC2 (S864G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1947000	NM_001303256.3(MORC2):c.2767C>T (p.Leu923=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1690531	NM_001303256.3(MORC2):c.2759G>A (p.Arg920Gln)	MORC2 (R858Q +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 475588	NM_001303256.3(MORC2):c.2754T>C (p.Cys918=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GBenign
Select item 3017368	NM_001303256.3(MORC2):c.2751T>C (p.Asn917=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1480192	NM_001303256.3(MORC2):c.2748-3T>C	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1381808	NM_001303256.3(MORC2):c.2748-6_2748-4del	MORC2	Microsatellite (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2061760	NM_001303256.3(MORC2):c.2748-15C>A	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 2001548	NM_001303256.3(MORC2):c.2747+19T>C	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1531018	NM_001303256.3(MORC2):c.2747+16G>T	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 1993952	NM_001303256.3(MORC2):c.2747+14T>C	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign
Select item 643268	NM_001303256.3(MORC2):c.2747+6T>C	MORC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 475587	NM_001303256.3(MORC2):c.2747+5_2747+6del	MORC2	Deletion (intron variant)	MORC2-related disorder +4 more	GBenign/Likely benign
Select item 2167225	NM_001303256.3(MORC2):c.2747+4del	MORC2	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 2827342	NM_001303256.3(MORC2):c.2747G>A (p.Arg916Gln)	MORC2 (R854Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z	GUncertain significance
Select item 1603779	NM_001303256.3(MORC2):c.2739G>A (p.Gln913=)	MORC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2Z	GLikely benign

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