27185[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 148530	GRCh38/hg38 1q42.2(chr1:231432777-231696534)x1	DISC1, LINC00582 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 156769	NM_001164556.1(DISC1):c.-53210_67+50454dup	TSNAX-DISC1, DISC1 +6 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 156768	NC_000001.11:g.231573658_231727458dup	TSNAX-DISC1, DISC1 +6 more	Duplication	Normal pregnancy	Gnot provided
Select item 156770	NM_001164556.1(DISC1):c.-51125_67+50454dup	LINC00582, LOC129388776 +6 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 152668	GRCh38/hg38 1q42.2(chr1:231579387-231678175)x3	DISC1, LINC00582 +6 more	Copy number gain	See cases	GBenign/Likely benign
Select item 149577	GRCh38/hg38 1q42.2(chr1:231613920-231678234)x3	DISC1, LOC129388776 +4 more	Copy number gain	See cases	GLikely benign
Select item 3055850	NM_018662.3(DISC1):c.38C>G (p.Ala13Gly)	DISC1, LOC129932771 +1 more (A13G)	Single nucleotide variant (missense variant)	DISC1-related disorder	GLikely benign
Select item 3272156	NM_018662.3(DISC1):c.40G>C (p.Gly14Arg)	DISC1, LOC129932771 +1 more (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049350	NM_018662.3(DISC1):c.42C>T (p.Gly14=)	DISC1, LOC129932771 +1 more	Single nucleotide variant (synonymous variant)	DISC1-related disorder	GLikely benign
Select item 98342	NM_018662.3(DISC1):c.54G>A (p.Val18=)	DISC1, LOC129932771 +1 more	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3051392	NM_018662.3(DISC1):c.67+4G>A	DISC1, LOC129932771 +1 more	Single nucleotide variant (intron variant)	DISC1-related disorder	GLikely benign
Select item 1691080	NM_018662.3(DISC1):c.67+5859A>T	DISC1, TSNAX-DISC1	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1686626	NM_018662.3(DISC1):c.109C>T (p.Arg37Trp)	DISC1, TSNAX-DISC1 (R37W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2285866	NM_018662.3(DISC1):c.161T>G (p.Ile54Ser)	DISC1, TSNAX-DISC1 (I54S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2510505	NM_018662.3(DISC1):c.163G>A (p.Gly55Arg)	DISC1, TSNAX-DISC1 (G55R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 785956	NM_018662.3(DISC1):c.196C>T (p.Arg66Trp)	DISC1, TSNAX-DISC1 (R66W)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder +1 more	GLikely benign
Select item 734810	NM_018662.3(DISC1):c.211G>T (p.Val71Leu)	DISC1, TSNAX-DISC1 (V71L)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder +1 more	GBenign
Select item 2218203	NM_018662.3(DISC1):c.220G>A (p.Glu74Lys)	DISC1, TSNAX-DISC1 (E74K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3272153	NM_018662.3(DISC1):c.257G>A (p.Cys86Tyr)	DISC1, TSNAX-DISC1 (C86Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2333226	NM_018662.3(DISC1):c.329C>T (p.Ser110Phe)	DISC1, TSNAX-DISC1 (S110F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 98343	NM_018662.3(DISC1):c.340A>T (p.Thr114Ser)	DISC1, TSNAX-DISC1 (T114S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 3051085	NM_018662.3(DISC1):c.342C>A (p.Thr114=)	DISC1, TSNAX-DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GLikely benign
Select item 3033253	NM_018662.3(DISC1):c.347C>T (p.Ala116Val)	DISC1, TSNAX-DISC1 (A116V)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GBenign
Select item 2402950	NM_018662.3(DISC1):c.379A>G (p.Arg127Gly)	DISC1, TSNAX-DISC1 (R127G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2217048	NM_018662.3(DISC1):c.404C>T (p.Pro135Leu)	DISC1, TSNAX-DISC1 (P135L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2397148	NM_018662.3(DISC1):c.457T>C (p.Ser153Pro)	DISC1, TSNAX-DISC1 (S153P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 98344	NM_018662.3(DISC1):c.472G>A (p.Ala158Thr)	TSNAX-DISC1, DISC1 (A158T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 714799	NM_018662.3(DISC1):c.479G>T (p.Trp160Leu)	DISC1, TSNAX-DISC1 (W160L)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder +1 more	GLikely benign
Select item 783018	NM_018662.3(DISC1):c.508C>T (p.Arg170Cys)	DISC1, TSNAX-DISC1 (R170C)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder +1 more	GBenign
Select item 2548325	NM_018662.3(DISC1):c.511G>A (p.Val171Ile)	DISC1, TSNAX-DISC1 (V171I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 720906	NM_018662.3(DISC1):c.555C>T (p.Asn185=)	DISC1, TSNAX-DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder +1 more	GBenign/Likely benign
Select item 3272154	NM_018662.3(DISC1):c.558C>A (p.Ser186Arg)	DISC1, TSNAX-DISC1 (S186R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2632119	NM_018662.3(DISC1):c.560G>A (p.Cys187Tyr)	DISC1, TSNAX-DISC1 (C187Y)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GUncertain significance
Select item 3272155	NM_018662.3(DISC1):c.595C>A (p.Pro199Thr)	DISC1, TSNAX-DISC1 (P199T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2688934	NM_018662.3(DISC1):c.615dup (p.Phe206fs)	DISC1, TSNAX-DISC1 (F206fs)	Duplication (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3082577	NM_018662.3(DISC1):c.640C>T (p.Arg214Trp)	DISC1, TSNAX-DISC1 (R214W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2220893	NM_018662.3(DISC1):c.641G>A (p.Arg214Gln)	DISC1, TSNAX-DISC1 (R214Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3058709	NM_018662.3(DISC1):c.690A>G (p.Pro230=)	DISC1, TSNAX-DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GLikely benign
Select item 2631538	NM_018662.3(DISC1):c.691C>T (p.Pro231Ser)	DISC1, TSNAX-DISC1 (P231S)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GUncertain significance
Select item 3082578	NM_018662.3(DISC1):c.760G>A (p.Gly254Arg)	DISC1, TSNAX-DISC1 (G254R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2252155	NM_018662.3(DISC1):c.767A>G (p.His256Arg)	DISC1, TSNAX-DISC1 (H256R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 98345	NM_018662.3(DISC1):c.768C>T (p.His256=)	DISC1, TSNAX-DISC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 98346	NM_018662.3(DISC1):c.791G>A (p.Arg264Gln)	DISC1, TSNAX-DISC1 (R264Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 5172	NM_018662.3(DISC1):c.[67+5859A>T;791G>A]	DISC1, TSNAX-DISC1 (R264Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Schizophrenia 9	Grisk factor
Select item 3082579	NM_018662.3(DISC1):c.817G>C (p.Val273Leu)	DISC1, TSNAX-DISC1 (V273L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 98347	NM_018662.3(DISC1):c.841G>A (p.Ala281Thr)	TSNAX-DISC1, DISC1 (A281T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 2217268	NM_018662.3(DISC1):c.887A>G (p.Asp296Gly)	DISC1, TSNAX-DISC1 (D296G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3272157	NM_018662.3(DISC1):c.941G>T (p.Gly314Val)	DISC1, TSNAX-DISC1 (G314V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2335816	NM_018662.3(DISC1):c.950G>A (p.Ser317Asn)	DISC1, TSNAX-DISC1 (S317N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 727777	NM_018662.3(DISC1):c.954C>T (p.Ser318=)	DISC1, TSNAX-DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 712258	NM_018662.3(DISC1):c.988C>T (p.Leu330Phe)	DISC1, TSNAX-DISC1 (L330F)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder +1 more	GBenign
Select item 750973	NM_018662.3(DISC1):c.990C>T (p.Leu330=)	DISC1, TSNAX-DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2291056	NM_018662.3(DISC1):c.1006G>C (p.Val336Leu)	DISC1, TSNAX-DISC1 (V336L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2688935	NM_018662.3(DISC1):c.1012C>T (p.Arg338Trp)	DISC1, TSNAX-DISC1 (R338W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2616597	NM_018662.3(DISC1):c.1015G>A (p.Asp339Asn)	DISC1, TSNAX-DISC1 (D339N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2531294	NM_018662.3(DISC1):c.1017C>G (p.Asp339Glu)	DISC1, TSNAX-DISC1 (D339E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2495421	NM_018662.3(DISC1):c.1033C>T (p.Arg345Trp)	DISC1, TSNAX-DISC1 (R345W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 713043	NM_018662.3(DISC1):c.1034G>A (p.Arg345Gln)	DISC1, TSNAX-DISC1 (R345Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2408891	NM_018662.3(DISC1):c.1036A>G (p.Arg346Gly)	DISC1, TSNAX-DISC1 (R346G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3036507	NM_018662.3(DISC1):c.1117+18828G>A	DISC1, TSNAX-DISC1	Single nucleotide variant (synonymous variant +1 more)	DISC1-related disorder	GLikely benign
Select item 545157	NC_000001.11:g.(?_231740970)_(231949671_?)del	DISC1, DISC1-IT1 +4 more	Deletion	Autism	GLikely pathogenic
Select item 2329327	NM_018662.3(DISC1):c.1123A>T (p.Thr375Ser)	DISC1, TSNAX-DISC1 (T407S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3036904	NM_018662.3(DISC1):c.1219C>T (p.His407Tyr)	TSNAX-DISC1, DISC1 (H407Y +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GUncertain significance
Select item 2523514	NM_018662.3(DISC1):c.1249C>T (p.Arg417Cys)	DISC1, TSNAX-DISC1 (R449C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2317260	NM_018662.3(DISC1):c.1249C>A (p.Arg417Ser)	DISC1, TSNAX-DISC1 (R67S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2309457	NM_018662.3(DISC1):c.1252C>T (p.Arg418Cys)	DISC1, TSNAX-DISC1 (R450C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 98348	NM_018662.3(DISC1):c.1286C>G (p.Thr429Ser)	DISC1, TSNAX-DISC1 (T429S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 98349	NM_018662.3(DISC1):c.1291A>G (p.Thr431Ala)	DISC1, TSNAX-DISC1 (T431A +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 771692	NM_018662.3(DISC1):c.1295C>T (p.Pro432Leu)	DISC1, TSNAX-DISC1 (P464L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
Select item 3082572	NM_018662.3(DISC1):c.1310C>T (p.Pro437Leu)	DISC1, TSNAX-DISC1 (P469L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 730531	NM_018662.3(DISC1):c.1347C>T (p.His449=)	DISC1, TSNAX-DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder +1 more	GBenign/Likely benign
Select item 784975	NM_018662.3(DISC1):c.1356C>T (p.Ile452=)	DISC1, TSNAX-DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3039507	NM_018662.3(DISC1):c.1358C>T (p.Thr453Met)	DISC1, TSNAX-DISC1 (T103M +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GBenign
Select item 2633720	NM_018662.3(DISC1):c.1361G>T (p.Arg454Ile)	DISC1, TSNAX-DISC1 (R104I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GUncertain significance
Select item 98350	NM_018662.3(DISC1):c.1363C>T (p.Arg455Ter)	DISC1, TSNAX-DISC1 (R455* +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 3059485	NM_018662.3(DISC1):c.1393C>T (p.Leu465=)	DISC1, TSNAX-DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GBenign
Select item 98351	NM_018662.3(DISC1):c.1401A>G (p.Lys467=)	TSNAX-DISC1, DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 1686627	NM_018662.3(DISC1):c.1453C>T (p.Gln485Ter)	DISC1, TSNAX-DISC1 (Q135* +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2629311	NM_018662.3(DISC1):c.1493A>C (p.Gln498Pro)	DISC1, TSNAX-DISC1 (Q148P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	DISC1-related disorder	GUncertain significance
Select item 2400671	NM_018662.3(DISC1):c.1516C>T (p.Pro506Ser)	DISC1, TSNAX-DISC1 (P506S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 98352	NM_018662.3(DISC1):c.1518A>G (p.Pro506=)	DISC1, TSNAX-DISC1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 719003	NM_018662.3(DISC1):c.1591G>C (p.Gly531Arg)	DISC1, TSNAX-DISC1 (G563R +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2463768	NM_018662.3(DISC1):c.1619C>G (p.Pro540Arg)	DISC1, TSNAX-DISC1 (P540R +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 746775	NM_018662.3(DISC1):c.1634+7C>G	DISC1, TSNAX-DISC1 (C547W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3041932	NM_018662.3(DISC1):c.1634+13T>G	DISC1, TSNAX-DISC1	Single nucleotide variant (3 prime UTR variant +1 more)	DISC1-related disorder	GLikely benign

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