10716[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 154464	GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1	TANK-AS1, TBR1 +58 more	Copy number loss	See cases	GLikely pathogenic
Select item 2498835	NM_006593.4(TBR1):c.19del (p.Leu7fs)	TBR1 (L7fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 791154	NM_006593.4(TBR1):c.54C>G (p.Leu18=)	TBR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 1749769	NM_006593.4(TBR1):c.57T>C (p.Asn19=)	TBR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1683641	NM_006593.4(TBR1):c.73C>A (p.Pro25Thr)	TBR1 (P25T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 589195	NM_006593.4(TBR1):c.73C>G (p.Pro25Ala)	TBR1 (P25A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2582983	NM_006593.4(TBR1):c.94C>A (p.Leu32Ile)	TBR1 (L32I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678853	NM_006593.4(TBR1):c.106G>A (p.Asp36Asn)	TBR1 (D36N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313002	NM_006593.4(TBR1):c.112C>T (p.Pro38Ser)	TBR1 (P38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579430	NM_006593.4(TBR1):c.147T>A (p.Ser49Arg)	TBR1 (S49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436983	NM_006593.4(TBR1):c.164T>C (p.Ile55Thr)	TBR1 (I55T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2283476	NM_006593.4(TBR1):c.165del (p.Thr56fs)	TBR1 (T56fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2497984	NM_006593.4(TBR1):c.167C>G (p.Thr56Ser)	TBR1 (T56S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981434	NM_006593.4(TBR1):c.173G>T (p.Gly58Val)	TBR1 (G58V)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1343070	NM_006593.4(TBR1):c.196_199del (p.Asp66fs)	TBR1 (D66fs)	Deletion (frameshift variant)	See cases +1 more	GPathogenic
Select item 916173	NM_006593.4(TBR1):c.212C>G (p.Ser71Cys)	TBR1 (S71C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1786859	NM_006593.4(TBR1):c.215A>G (p.Lys72Arg)	TBR1 (K72R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234559	NM_006593.4(TBR1):c.217G>T (p.Asp73Tyr)	TBR1 (D73Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589535	NM_006593.4(TBR1):c.227G>A (p.Gly76Glu)	TBR1 (G76E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319835	NM_006593.4(TBR1):c.231C>A (p.Asp77Glu)	TBR1 (D77E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589618	NM_006593.4(TBR1):c.243T>C (p.Ser81=)	TBR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2436985	NM_006593.4(TBR1):c.251C>G (p.Ser84Cys)	TBR1 (S84C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 3024658	NM_006593.4(TBR1):c.256G>T (p.Val86Phe)	TBR1 (V86F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 680335	NM_006593.4(TBR1):c.261G>A (p.Leu87=)	TBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553459	NM_006593.4(TBR1):c.277C>T (p.Leu93Phe)	TBR1 (L93F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2701932	NM_006593.4(TBR1):c.278T>A (p.Leu93His)	TBR1 (L93H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300130	NM_006593.4(TBR1):c.284A>G (p.His95Arg)	TBR1 (H95R)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2436982	NM_006593.4(TBR1):c.287G>A (p.Ser96Asn)	TBR1 (S96N)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2662805	NM_006593.4(TBR1):c.308A>G (p.Asp103Gly)	TBR1 (D103G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506755	NM_006593.4(TBR1):c.337C>T (p.Pro113Ser)	TBR1 (P113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302196	NM_006593.4(TBR1):c.337C>G (p.Pro113Ala)	TBR1 (P113A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580518	NM_006593.4(TBR1):c.343T>C (p.Ser115Pro)	TBR1 (S115P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569559	NM_006593.4(TBR1):c.353C>G (p.Thr118Ser)	TBR1 (T118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587992	NM_006593.4(TBR1):c.358C>T (p.Pro120Ser)	TBR1 (P120S)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5 +2 more	GUncertain significance
Select item 2630044	NM_006593.4(TBR1):c.361A>G (p.Ser121Gly)	TBR1 (S121G)	Single nucleotide variant (missense variant)	TBR1-related disorder	GUncertain significance
Select item 2574928	NM_006593.4(TBR1):c.372C>G (p.Phe124Leu)	TBR1 (F124L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579417	NM_006593.4(TBR1):c.373C>A (p.Pro125Thr)	TBR1 (P125T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698967	NM_006593.4(TBR1):c.381del (p.Gly128fs)	TBR1 (G128fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 589036	NM_006593.4(TBR1):c.396G>A (p.Pro132=)	TBR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 599048	NM_006593.4(TBR1):c.405del (p.Ala136fs)	TBR1 (A136fs)	Deletion (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 1690500	NM_006593.4(TBR1):c.404C>A (p.Pro135His)	TBR1 (P135H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2573063	NM_006593.4(TBR1):c.412_413dup (p.Ile139fs)	TBR1 (I139fs)	Microsatellite (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 2662204	NM_006593.4(TBR1):c.418G>A (p.Gly140Ser)	TBR1 (G140S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067907	NM_006593.4(TBR1):c.440C>G (p.Ala147Gly)	TBR1 (A147G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2443426	NM_006593.4(TBR1):c.445C>A (p.His149Asn)	TBR1 (H149N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041633	NM_006593.4(TBR1):c.459C>T (p.Thr153=)	TBR1	Single nucleotide variant (synonymous variant)	TBR1-related disorder	GLikely benign
Select item 1741936	NM_006593.4(TBR1):c.461A>G (p.Asn154Ser)	TBR1 (N154S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029412	NM_006593.4(TBR1):c.465A>C (p.Gly155=)	TBR1	Single nucleotide variant (synonymous variant)	TBR1-related disorder	GLikely benign
Select item 523672	NM_006593.4(TBR1):c.471del (p.Ala156_Tyr157insTer)	TBR1	Deletion (nonsense)	Autistic behavior +1 more	GLikely pathogenic
Select item 1745201	NM_006593.4(TBR1):c.507C>T (p.Tyr169=)	TBR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1700558	NM_006593.4(TBR1):c.523C>G (p.Pro175Ala)	TBR1 (P175A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2507139	NM_006593.4(TBR1):c.538T>A (p.Tyr180Asn)	TBR1 (Y180N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932939	NM_006593.4(TBR1):c.553C>T (p.Gln185Ter)	TBR1 (Q185*)	Single nucleotide variant (nonsense)	Moderate global developmental delay +3 more	GLikely pathogenic
Select item 2690224	NM_006593.4(TBR1):c.559G>C (p.Ala187Pro)	TBR1 (A187P)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 932374	NM_006593.4(TBR1):c.571C>T (p.Gln191Ter)	TBR1 (Q191*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1701082	NM_006593.4(TBR1):c.581C>T (p.Ser194Phe)	TBR1 (S194F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588241	NM_006593.4(TBR1):c.592G>C (p.Gly198Arg)	TBR1 (G198R)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5 +1 more	GUncertain significance
Select item 2325692	NM_006593.4(TBR1):c.638T>A (p.Leu213His)	TBR1 (L213H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2664026	NM_006593.4(TBR1):c.661C>A (p.Gln221Lys)	TBR1 (Q221K)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 1307229	NM_006593.4(TBR1):c.663A>C (p.Gln221His)	TBR1 (Q221H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520662	NM_006593.4(TBR1):c.667G>C (p.Glu223Gln)	TBR1 (E223Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 1312902	NM_006593.4(TBR1):c.670A>G (p.Met224Val)	TBR1 (M224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523673	NM_006593.4(TBR1):c.673A>T (p.Ile225Phe)	TBR1 (I225F)	Single nucleotide variant (missense variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 599050	NM_006593.4(TBR1):c.682A>G (p.Lys228Glu)	TBR1	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GPathogenic
Select item 2683943	NM_006593.4(TBR1):c.691A>G (p.Arg231Gly)	TBR1 (R231G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GLikely pathogenic
Select item 523674	NM_006593.4(TBR1):c.713_719del (p.Ser238fs)	TBR1 (S238fs)	Deletion (frameshift variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 2576077	NM_006593.4(TBR1):c.710T>A (p.Leu237Ter)	TBR1 (L237*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1698001	NM_006593.4(TBR1):c.710T>C (p.Leu237Ser)	TBR1 (L237S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1758318	NM_006593.4(TBR1):c.732_734delinsGGTCTGGTTTTAACATT (p.Asp245delinsValTrpPheTer)	TBR1	Indel (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 2486573	NM_006593.4(TBR1):c.739A>G (p.Thr247Ala)	TBR1 (T247A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627895	NM_006593.4(TBR1):c.748T>C (p.Tyr250His)	TBR1 (Y250H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2498010	NM_006593.4(TBR1):c.751A>G (p.Asn251Asp)	TBR1 (N251D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632268	NM_006593.4(TBR1):c.759del (p.Phe253fs)	TBR1 (F253fs)	Deletion (frameshift variant)	TBR1-related disorder	GLikely pathogenic
Select item 1712570	NM_006593.4(TBR1):c.761T>C (p.Val254Ala)	TBR1 (V254A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573869	NM_006593.4(TBR1):c.762G>A (p.Val254=)	TBR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 523675	NM_006593.4(TBR1):c.811T>C (p.Trp271Arg)	TBR1 (W271R)	Single nucleotide variant (missense variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 523676	NM_006593.4(TBR1):c.812G>C (p.Trp271Ser)	TBR1 (W271S)	Single nucleotide variant (missense variant)	Moderate global developmental delay	GLikely pathogenic
Select item 599052	NM_006593.4(TBR1):c.813G>T (p.Trp271Cys)	TBR1 (W271C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GPathogenic
Select item 1307496	NM_006593.4(TBR1):c.822C>G (p.Cys274Trp)	TBR1 (C274W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878590	NM_006593.4(TBR1):c.842T>C (p.Val281Ala)	TBR1 (V281A)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 523677	NM_006593.4(TBR1):c.844C>T (p.Gln282Ter)	TBR1 (Q282*)	Single nucleotide variant (nonsense)	Autistic behavior +1 more	GLikely pathogenic
Select item 515536	NM_006593.4(TBR1):c.848-4C>G	TBR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1696660	NM_006593.4(TBR1):c.853C>G (p.Arg285Gly)	TBR1 (R285G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 1304142	NM_006593.4(TBR1):c.860A>C (p.Tyr287Ser)	TBR1 (Y287S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446327	NM_006593.4(TBR1):c.869C>T (p.Pro290Leu)	TBR1 (P290L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068411	NM_006593.4(TBR1):c.880A>C (p.Asn294His)	TBR1 (N294H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 523678	NM_006593.4(TBR1):c.896G>A (p.Trp299Ter)	TBR1 (W299*)	Single nucleotide variant (nonsense)	Marfanoid habitus and intellectual disability +2 more	GLikely pathogenic
Select item 2431841	NM_006593.4(TBR1):c.913T>C (p.Ser305Pro)	TBR1 (S305P)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2626977	NM_006593.4(TBR1):c.919G>A (p.Gly307Arg)	TBR1 (G307R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414416	NM_006593.4(TBR1):c.929A>C (p.Lys310Thr)	TBR1 (K310T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932940	NM_006593.4(TBR1):c.933_934insCAAAGGA (p.Thr312fs)	TBR1 (T312fs)	Insertion (frameshift variant)	Delayed fine motor development +3 more	GLikely pathogenic
Select item 2576024	NM_006593.4(TBR1):c.935C>A (p.Thr312Lys)	TBR1 (T312K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1308658	NM_006593.4(TBR1):c.969+1G>C	TBR1	Single nucleotide variant (splice donor variant)	Autism, susceptibility to, 5	GPathogenic
Select item 1767924	NM_006593.4(TBR1):c.970-4A>G	TBR1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2635421	NM_006593.4(TBR1):c.970-3C>G	TBR1	Single nucleotide variant (intron variant)	TBR1-related disorder	GLikely pathogenic
Select item 745072	NM_006593.4(TBR1):c.987C>T (p.Ser329=)	TBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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