CSMD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GPathogenic
Select item 155587	GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1	ARHGEF10, CLN8 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60329	GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1	ARHGEF10, CLN8 +68 more	Copy number loss	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154744	GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1	ARHGEF10, CLN8 +69 more	Copy number loss	See cases	GUncertain significance
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	LOC126860267, LOC126860268 +126 more	Copy number loss	See cases	GPathogenic
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 148183	GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GLikely pathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	See cases	GPathogenic
Select item 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147569	GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	DEFA6, DEFB1 +123 more	Copy number gain	See cases	GPathogenic
Select item 145578	GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 60342	GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	LOC132089596, LOC132089598 +123 more	Copy number gain	See cases	GPathogenic
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 148126	GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3	AGPAT5, ANGPT2 +161 more	Copy number gain	See cases	GBenign
Select item 58955	GRCh38/hg38 8p23.3-23.2(chr8:1891352-3929104)x1	ARHGEF10, CSMD1 +25 more	Copy number loss	See cases	GUncertain significance
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 155704	GRCh38/hg38 8p23.2(chr8:2475295-3131009)x3	CSMD1, LINC03021 +8 more	Copy number gain	See cases	GLikely benign
Select item 150216	GRCh38/hg38 8p23.3-23.2(chr8:2475295-3055688)x3	CSMD1, LINC03021 +7 more	Copy number gain	See cases	GLikely benign
Select item 148608	GRCh38/hg38 8p23.3-23.2(chr8:2475295-3393436)x3	CSMD1, LINC03021 +9 more	Copy number gain	See cases	GUncertain significance
Select item 58378	GRCh38/hg38 8p23.3-23.2(chr8:2475295-3391665)x3	CSMD1, LINC03021 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57082	GRCh38/hg38 8p23.2(chr8:2475295-3082171)x3	CSMD1, LINC03021 +7 more	Copy number gain	See cases	GUncertain significance
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 152325	GRCh38/hg38 8p23.2(chr8:2605460-3270586)x3	CSMD1, LINC03021 +8 more	Copy number gain	See cases	GUncertain significance
Select item 152254	GRCh38/hg38 8p23.2-23.1(chr8:2605460-7026475)x3	AGPAT5, ANGPT2 +67 more	Copy number gain	See cases	GUncertain significance
Select item 150724	GRCh38/hg38 8p23.2-23.1(chr8:2605460-6605579)x3	ANGPT2, CSMD1 +32 more	Copy number gain	See cases	GPathogenic
Select item 150411	GRCh38/hg38 8p23.2(chr8:2605460-3036751)x3	CSMD1, LINC03021 +6 more	Copy number gain	See cases	GBenign
Select item 149435	GRCh38/hg38 8p23.2(chr8:2605460-4821349)x3	CSMD1, LINC03021 +12 more	Copy number gain	See cases	GLikely benign
Select item 147087	GRCh38/hg38 8p23.2(chr8:2605460-2936937)x3	LOC123987609, CSMD1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 146263	GRCh38/hg38 8p23.2(chr8:2605460-3988766)x3	CSMD1, LINC03021 +10 more	Copy number gain	See cases	GUncertain significance
Select item 58956	GRCh38/hg38 8p23.2(chr8:2605460-3989878)x1	CSMD1, LINC03021 +10 more	Copy number loss	See cases	GUncertain significance
Select item 160962	GRCh38/hg38 8p23.2(chr8:2641113-3269970)x3	CSMD1, LINC03021 +8 more	Copy number gain	See cases	GUncertain significance
Select item 149692	GRCh38/hg38 8p23.2(chr8:2641113-3321965)x3	CSMD1, LINC03021 +8 more	Copy number gain	See cases	GUncertain significance
Select item 35312	GRCh38/hg38 8p23.2(chr8:2641113-3269970)x3	CSMD1, LINC03021 +8 more	Copy number gain	See cases	GUncertain significance
Select item 545355	NC_000008.11:g.(?_2724493)_(4921893_?)del	CSMD1, LINC03021 +12 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 149313	GRCh38/hg38 8p23.2(chr8:2868312-3433790)x3	CSMD1, LOC105377785 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2526029	NM_033225.6(CSMD1):c.10688T>A (p.Val3563Glu)	CSMD1, LOC105377785 (V3563E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078064	NM_033225.6(CSMD1):c.10649C>G (p.Ala3550Gly)	CSMD1, LOC105377785 (A3550G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637072	NM_033225.6(CSMD1):c.10607A>T (p.Asn3536Ile)	CSMD1, LOC105377785 (N3536I)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2236521	NM_033225.6(CSMD1):c.10594G>A (p.Ala3532Thr)	CSMD1, LOC105377785 (A3532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396679	NM_033225.6(CSMD1):c.10581C>G (p.Asn3527Lys)	CSMD1, LOC105377785 (N3527K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609589	NM_033225.6(CSMD1):c.10558A>G (p.Asn3520Asp)	CSMD1, LOC105377785 (N3520D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509664	NM_033225.6(CSMD1):c.10541G>C (p.Arg3514Thr)	CSMD1, LOC105377785 (R3514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276961	NM_033225.6(CSMD1):c.10536-11G>A	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3078063	NM_033225.6(CSMD1):c.10531C>A (p.His3511Asn)	CSMD1, LOC105377785 (H3511N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269795	NM_033225.6(CSMD1):c.10480G>C (p.Val3494Leu)	CSMD1, LOC105377785 (V3494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269801	NM_033225.6(CSMD1):c.10444G>A (p.Gly3482Ser)	CSMD1, LOC105377785 (G3482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492838	NM_033225.6(CSMD1):c.10442A>T (p.His3481Leu)	CSMD1, LOC105377785 (H3481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038258	NM_033225.6(CSMD1):c.10433G>A (p.Ser3478Asn)	CSMD1, LOC105377785 (S3478N)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GBenign
Select item 2688887	NM_033225.6(CSMD1):c.10429T>A (p.Ser3477Thr)	CSMD1, LOC105377785 (S3477T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3269820	NM_033225.6(CSMD1):c.10424A>G (p.Asp3475Gly)	CSMD1, LOC105377785 (D3475G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541308	NM_033225.6(CSMD1):c.10422A>T (p.Gln3474His)	CSMD1, LOC105377785 (Q3474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045826	NM_033225.6(CSMD1):c.10405C>G (p.Pro3469Ala)	CSMD1, LOC105377785 (P3469A)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GBenign
Select item 3039975	NM_033225.6(CSMD1):c.10403-4A>G	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	CSMD1-related disorder	GLikely benign
Select item 3269827	NM_033225.6(CSMD1):c.10374C>G (p.Asp3458Glu)	CSMD1, LOC105377785 (D3458E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078062	NM_033225.6(CSMD1):c.10363C>A (p.His3455Asn)	CSMD1, LOC105377785 (H3455N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215984	NM_033225.6(CSMD1):c.10358A>G (p.Asp3453Gly)	CSMD1, LOC105377785 (D3453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 799854	NM_033225.6(CSMD1):c.10338A>G (p.Gly3446=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078061	NM_033225.6(CSMD1):c.10331A>G (p.Glu3444Gly)	CSMD1, LOC105377785 (E3444G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58380	GRCh38/hg38 8p23.2(chr8:2950225-4051517)x3	CSMD1, LOC105377785 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2632339	NM_033225.6(CSMD1):c.10314+1G>A	CSMD1, LOC105377785	Single nucleotide variant (splice donor variant)	CSMD1-related disorder	GUncertain significance
Select item 3078060	NM_033225.6(CSMD1):c.10294A>T (p.Asn3432Tyr)	CSMD1, LOC105377785 (N3432Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688891	NM_033225.6(CSMD1):c.10231C>G (p.Leu3411Val)	CSMD1, LOC105377785 (L3411V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3078059	NM_033225.6(CSMD1):c.10204A>G (p.Ile3402Val)	CSMD1, LOC105377785 (I3402V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2658315	NM_033225.6(CSMD1):c.10197G>A (p.Leu3399=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547731	NM_033225.6(CSMD1):c.10189C>G (p.Leu3397Val)	CSMD1, LOC105377785 (L3397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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