26504[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	ADRA2B, ANKRD23 +126 more	Copy number gain	See cases	GUncertain significance
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 144712	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1	ADRA2B, ANKRD23 +119 more	Copy number loss	See cases	GPathogenic
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	KANSL3, LMAN2L +123 more	Copy number loss	See cases	GPathogenic
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 57434	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1	ADRA2B, ANKRD23 +121 more	Copy number loss	See cases	GPathogenic
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 1276457	NC_000002.12:g.96760804G>A	CNNM4	Single nucleotide variant	not provided	GBenign
Select item 337575	NM_020184.4(CNNM4):c.-90C>T	CNNM4	Single nucleotide variant (5 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 193424	NM_020184.4(CNNM4):c.-14A>C	CNNM4	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2038789	NM_020184.4(CNNM4):c.7C>G (p.Pro3Ala)	CNNM4 (P3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536521	NM_020184.4(CNNM4):c.9G>T (p.Pro3=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361444	NM_020184.4(CNNM4):c.13G>T (p.Gly5Cys)	CNNM4 (G5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632940	NM_020184.4(CNNM4):c.18G>A (p.Gly6=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 851089	NM_020184.4(CNNM4):c.19G>A (p.Gly7Ser)	CNNM4 (G7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402965	NM_020184.4(CNNM4):c.29_55del (p.Pro10_Arg18del)	CNNM4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2603150	NM_020184.4(CNNM4):c.34G>T (p.Gly12Cys)	CNNM4 (G12C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2003546	NM_020184.4(CNNM4):c.34G>C (p.Gly12Arg)	CNNM4 (G12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008521	NM_020184.4(CNNM4):c.37G>A (p.Gly13Arg)	CNNM4 (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475562	NM_020184.4(CNNM4):c.40C>G (p.Pro14Ala)	CNNM4 (P14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 957927	NM_020184.4(CNNM4):c.43G>T (p.Ala15Ser)	CNNM4 (A15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957264	NM_020184.4(CNNM4):c.47G>A (p.Arg16His)	CNNM4 (R16H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1126393	NM_020184.4(CNNM4):c.60C>G (p.Leu20=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 337576	NM_020184.4(CNNM4):c.61C>G (p.Leu21Val)	CNNM4 (L21V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2853	NM_020184.4(CNNM4):c.64_147del (p.Ala22_Met49del)	CNNM4	Deletion (inframe_deletion)	Jalili syndrome	GPathogenic
Select item 2113730	NM_020184.4(CNNM4):c.69G>A (p.Ala23=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445304	NM_020184.4(CNNM4):c.71C>T (p.Pro24Leu)	CNNM4 (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964838	NM_020184.4(CNNM4):c.73GTGCTGCTG[1] (p.25VLL[1])	CNNM4	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 337577	NM_020184.4(CNNM4):c.78G>A (p.Leu26=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome	GUncertain significance
Select item 3009676	NM_020184.4(CNNM4):c.85C>T (p.Leu29=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013699	NM_020184.4(CNNM4):c.86del (p.Leu29fs)	CNNM4 (L29fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 999867	NM_020184.4(CNNM4):c.91_99dup (p.Trp31_Leu33dup)	CNNM4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 288785	NM_020184.4(CNNM4):c.91T>C (p.Trp31Arg)	CNNM4 (W31R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2106564	NM_020184.4(CNNM4):c.96G>C (p.Ala32=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971449	NM_020184.4(CNNM4):c.103G>A (p.Ala35Thr)	CNNM4 (A35T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605206	NM_020184.4(CNNM4):c.105C>A (p.Ala35=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1082556	NM_020184.4(CNNM4):c.106C>T (p.Arg36Trp)	CNNM4 (R36W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1416698	NM_020184.4(CNNM4):c.112C>A (p.Gln38Lys)	CNNM4 (Q38K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2217189	NM_020184.4(CNNM4):c.113A>T (p.Gln38Leu)	CNNM4 (Q38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1000303	NM_020184.4(CNNM4):c.114G>C (p.Gln38His)	CNNM4 (Q38H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873121	NM_020184.4(CNNM4):c.120C>T (p.Ser40=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 966219	NM_020184.4(CNNM4):c.122C>G (p.Pro41Arg)	CNNM4 (P41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337578	NM_020184.4(CNNM4):c.135G>A (p.Thr45=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome	GUncertain significance
Select item 1653037	NM_020184.4(CNNM4):c.138C>A (p.Ile46=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517609	NM_020184.4(CNNM4):c.145A>T (p.Met49Leu)	CNNM4 (M49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443458	NM_020184.4(CNNM4):c.154dup (p.Ala52fs)	CNNM4 (A52fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2001435	NM_020184.4(CNNM4):c.158G>A (p.Ser53Asn)	CNNM4 (S53N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3268186	NM_020184.4(CNNM4):c.163A>G (p.Asn55Asp)	CNNM4 (N55D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1413831	NM_020184.4(CNNM4):c.164A>G (p.Asn55Ser)	CNNM4 (N55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1933356	NM_020184.4(CNNM4):c.171G>C (p.Ser57=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 968262	NM_020184.4(CNNM4):c.179C>G (p.Thr60Arg)	CNNM4 (T60R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537559	NM_020184.4(CNNM4):c.183C>T (p.Asn61=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1056046	NM_020184.4(CNNM4):c.187G>C (p.Asp63His)	CNNM4 (D63H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2007753	NM_020184.4(CNNM4):c.193A>C (p.Ile65Leu)	CNNM4 (I65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025780	NM_020184.4(CNNM4):c.205T>G (p.Ser69Ala)	CNNM4 (S69A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470779	NM_020184.4(CNNM4):c.230G>A (p.Arg77Lys)	CNNM4 (R77K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1146269	NM_020184.4(CNNM4):c.237C>T (p.Tyr79=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 967194	NM_020184.4(CNNM4):c.238G>T (p.Gly80Cys)	CNNM4 (G80C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369750	NM_020184.4(CNNM4):c.242A>G (p.Tyr81Cys)	CNNM4 (Y81C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337579	NM_020184.4(CNNM4):c.243C>T (p.Tyr81=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome	GUncertain significance
Select item 1134937	NM_020184.4(CNNM4):c.249G>A (p.Leu83=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 337580	NM_020184.4(CNNM4):c.253A>G (p.Asn85Asp)	CNNM4 (N85D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1117916	NM_020184.4(CNNM4):c.258C>T (p.Ile86=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1491151	NM_020184.4(CNNM4):c.264C>G (p.Ser88Arg)	CNNM4 (S88R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937995	NM_020184.4(CNNM4):c.266A>G (p.Asn89Ser)	CNNM4 (N89S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915788	NM_020184.4(CNNM4):c.269T>C (p.Leu90Pro)	CNNM4 (L90P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1069696	NM_020184.4(CNNM4):c.279del (p.Phe93fs)	CNNM4 (F93fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 959349	NM_020184.4(CNNM4):c.280del (p.Thr94fs)	CNNM4 (T94fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2997406	NM_020184.4(CNNM4):c.282C>T (p.Thr94=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 899168	NM_020184.4(CNNM4):c.283G>C (p.Glu95Gln)	CNNM4 (E95Q)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 1467044	NM_020184.4(CNNM4):c.284A>T (p.Glu95Val)	CNNM4 (E95V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372795	NM_020184.4(CNNM4):c.284A>G (p.Glu95Gly)	CNNM4 (E95G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1580293	NM_020184.4(CNNM4):c.294T>C (p.Asp98=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705601	NM_020184.4(CNNM4):c.297C>G (p.Ala99=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1547091	NM_020184.4(CNNM4):c.297C>T (p.Ala99=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1056188	NM_020184.4(CNNM4):c.323G>C (p.Cys108Ser)	CNNM4 (C108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287338	NM_020184.4(CNNM4):c.325C>T (p.Leu109Phe)	CNNM4 (L109F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036150	NM_020184.4(CNNM4):c.340del (p.Asp114fs)	CNNM4 (D114fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1035790	NM_020184.4(CNNM4):c.340G>A (p.Asp114Asn)	CNNM4 (D114N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1108287	NM_020184.4(CNNM4):c.348C>G (p.Val116=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324874	NM_020184.4(CNNM4):c.349G>A (p.Val117Ile)	CNNM4 (V117I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1052669	NM_020184.4(CNNM4):c.365A>G (p.Asn122Ser)	CNNM4 (N122S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354583	NM_020184.4(CNNM4):c.373C>G (p.Arg125Gly)	CNNM4 (R125G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071564	NM_020184.4(CNNM4):c.385T>A (p.Ser129Thr)	CNNM4 (S129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2297586	NM_020184.4(CNNM4):c.388G>C (p.Gly130Arg)	CNNM4 (G130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95944	NM_020184.4(CNNM4):c.399G>A (p.Val133=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +2 more	GBenign/Likely benign

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