CNNM3[gene] - 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 3146557	NM_017623.5(CNNM3):c.14T>C (p.Val5Ala)	CNNM3, LOC129934366 (V5A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146564	NM_017623.5(CNNM3):c.20C>T (p.Ala7Val)	CNNM3, LOC129934366 (A7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360773	NM_017623.5(CNNM3):c.28C>T (p.Arg10Trp)	CNNM3, LOC129934366 (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355215	NM_017623.5(CNNM3):c.28C>G (p.Arg10Gly)	CNNM3, LOC129934366 (R10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146575	NM_017623.5(CNNM3):c.76G>A (p.Glu26Lys)	CNNM3, LOC129934366 (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146576	NM_017623.5(CNNM3):c.86C>T (p.Pro29Leu)	CNNM3, LOC129934366 (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224453	NM_017623.5(CNNM3):c.95G>C (p.Arg32Pro)	CNNM3, LOC129934366 (R32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263302	NM_017623.5(CNNM3):c.146T>C (p.Val49Ala)	CNNM3, LOC129934366 (V49A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509802	NM_017623.5(CNNM3):c.215C>T (p.Ala72Val)	CNNM3, LOC129934366 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248304	NM_017623.5(CNNM3):c.341C>T (p.Ser114Leu)	CNNM3, LOC129934366 (S114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458331	NM_017623.5(CNNM3):c.376G>T (p.Gly126Trp)	CNNM3, LOC129934366 (G126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383958	NM_017623.5(CNNM3):c.383C>T (p.Ala128Val)	CNNM3, LOC129934366 (A128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146567	NM_017623.5(CNNM3):c.398C>T (p.Pro133Leu)	CNNM3, LOC129934366 (P133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146569	NM_017623.5(CNNM3):c.403T>C (p.Trp135Arg)	CNNM3, LOC129934366 (W135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146570	NM_017623.5(CNNM3):c.424G>A (p.Ala142Thr)	CNNM3, LOC129934366 (A142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517698	NM_017623.5(CNNM3):c.547C>T (p.Arg183Cys)	CNNM3, LOC129934366 (R183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146571	NM_017623.5(CNNM3):c.562C>G (p.Arg188Gly)	CNNM3, LOC129934366 (R188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378058	NM_017623.5(CNNM3):c.565C>T (p.Arg189Cys)	CNNM3, LOC129934366 (R189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146572	NM_017623.5(CNNM3):c.581C>A (p.Ala194Asp)	CNNM3 (A194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535440	NM_017623.5(CNNM3):c.605C>G (p.Ala202Gly)	CNNM3, LOC129934367 (A202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392513	NM_017623.5(CNNM3):c.632T>C (p.Val211Ala)	CNNM3, LOC129934367 (V211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287910	NM_017623.5(CNNM3):c.656A>G (p.Gln219Arg)	CNNM3, LOC129934367 (Q219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594512	NM_017623.5(CNNM3):c.662C>G (p.Ala221Gly)	CNNM3, LOC129934367 (A221G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606223	NM_017623.5(CNNM3):c.679G>A (p.Gly227Ser)	CNNM3, LOC129934367 (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278240	NM_017623.5(CNNM3):c.737G>T (p.Arg246Leu)	CNNM3 (R246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146573	NM_017623.5(CNNM3):c.752T>C (p.Leu251Pro)	CNNM3, LOC129934368 (L251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146574	NM_017623.5(CNNM3):c.755C>T (p.Ala252Val)	CNNM3, LOC129934368 (A252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520815	NM_017623.5(CNNM3):c.797C>G (p.Thr266Ser)	CNNM3, LOC129934368 (T266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484016	NM_017623.5(CNNM3):c.799C>G (p.Leu267Val)	CNNM3, LOC129934368 (L267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405511	NM_017623.5(CNNM3):c.826C>G (p.Leu276Val)	CNNM3, LOC129934368 (L276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146577	NM_017623.5(CNNM3):c.878T>G (p.Leu293Arg)	CNNM3 (L293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288024	NM_017623.5(CNNM3):c.881C>G (p.Ala294Gly)	CNNM3 (A294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146555	NM_017623.5(CNNM3):c.1000G>C (p.Asp334His)	CNNM3 (D334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537298	NM_017623.5(CNNM3):c.1116T>G (p.Asp372Glu)	CNNM3 (D372E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221267	NM_017623.5(CNNM3):c.1160A>G (p.Asn387Ser)	CNNM3 (N387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489787	NM_017623.5(CNNM3):c.1318G>A (p.Val440Met)	CNNM3 (V440M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257188	NM_017623.5(CNNM3):c.1322T>C (p.Ile441Thr)	CNNM3 (I441T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146556	NM_017623.5(CNNM3):c.1333A>C (p.Ile445Leu)	CNNM3 (I445L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362745	NM_017623.5(CNNM3):c.1448T>C (p.Val483Ala)	CNNM3 (V435A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146558	NM_017623.5(CNNM3):c.1504C>T (p.Arg502Cys)	CNNM3 (R454C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146559	NM_017623.5(CNNM3):c.1517G>A (p.Arg506Gln)	CNNM3 (R506Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358572	NM_017623.5(CNNM3):c.1543C>T (p.Arg515Cys)	CNNM3 (R467C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146560	NM_017623.5(CNNM3):c.1553A>G (p.Glu518Gly)	CNNM3 (E470G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357969	NM_017623.5(CNNM3):c.1661C>T (p.Pro554Leu)	CNNM3 (P506L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560152	NM_017623.5(CNNM3):c.1711G>A (p.Gly571Arg)	CNNM3 (G523R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146561	NM_017623.5(CNNM3):c.1732G>A (p.Glu578Lys)	CNNM3 (E530K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292050	NM_017623.5(CNNM3):c.1748C>T (p.Thr583Met)	CNNM3 (T583M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487714	NM_017623.5(CNNM3):c.1798C>A (p.Pro600Thr)	CNNM3 (P552T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375290	NM_017623.5(CNNM3):c.1856C>T (p.Thr619Met)	CNNM3 (T571M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364108	NM_017623.5(CNNM3):c.1868C>T (p.Ala623Val)	CNNM3 (A575V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146562	NM_017623.5(CNNM3):c.1960C>G (p.Arg654Gly)	CNNM3 (R654G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146563	NM_017623.5(CNNM3):c.2036G>A (p.Gly679Asp)	CNNM3 (G631D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484563	NM_017623.5(CNNM3):c.2042A>C (p.Lys681Thr)	CNNM3 (K633T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601001	NM_017623.5(CNNM3):c.2080G>A (p.Gly694Ser)	CNNM3, LOC126806275 (G646S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146566	NM_017623.5(CNNM3):c.2105G>A (p.Gly702Glu)	CNNM3, LOC126806275 (G702E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239514	NM_017623.5(CNNM3):c.2114C>T (p.Pro705Leu)	CNNM3, LOC126806275 (P705L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233981	NM_017623.5(CNNM3):c.2117G>A (p.Gly706Asp)	CNNM3, LOC126806275 (G706D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	LMAN2L, NCAPH +19 more	Copy number loss	not provided	GPathogenic
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685858	GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3	ADRA2B, ANKRD23 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671593	Single allele	ADRA2B, ANKRD23 +20 more	Deletion	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340229	GRCh37/hg19 2q11.1-11.2(chr2:96544603-98025634)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1047904	GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)	CIAO1, CNNM3 +19 more	Copy number loss	Cleft lip +1 more	GPathogenic
Select item 997821	Single allele	ANKRD36B, ANKRD39 +20 more	Deletion	Intellectual disability	GPathogenic
Select item 980467	GRCh37/hg19 2q11.1-11.2(chr2:96544602-97706860)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 980466	GRCh37/hg19 2q11.1-11.2(chr2:96421161-97765561)x1	ASTL, CIAO1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 980465	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98162176)x3	ARID5A, ASTL +22 more	Copy number gain	not provided	GUncertain significance
Select item 929377	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98193473)x3	CIAO1, CNNM3 +20 more	Copy number gain	See cases	GUncertain significance
Select item 929311	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1	CNNM3, CNNM4 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 831980	NC_000002.12:g.(?_96733519)_(96832047_?)del	CNNM3, CNNM4 +1 more	Deletion	not provided	GPathogenic
Select item 831314	NC_000002.12:g.(?_96537365)_(97009221_?)dup	ARID5A, CNNM3 +8 more	Duplication	not provided	GUncertain significance
Select item 814284	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98118115)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814283	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98254657)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 687873	GRCh37/hg19 2q11.1-11.2(chr2:96552903-98118115)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GPathogenic

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