11953[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	ANKRD45, CACYBP +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 2405877	NM_003285.3(TNR):c.4037G>A (p.Arg1346His)	TNR (R1346H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180576	NM_003285.3(TNR):c.4033C>G (p.His1345Asp)	TNR (H1345D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233685	NM_003285.3(TNR):c.3959G>A (p.Gly1320Asp)	TNR (G1320D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180575	NM_003285.3(TNR):c.3937G>A (p.Gly1313Arg)	TNR (G1313R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686264	NM_003285.3(TNR):c.3916A>C (p.Thr1306Pro)	TNR (T1306P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	GPathogenic
Select item 3327671	NM_003285.3(TNR):c.3913C>T (p.Arg1305Trp)	TNR (R972W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727025	NM_003285.3(TNR):c.3913C>A (p.Arg1305=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711296	NM_003285.3(TNR):c.3879G>A (p.Ser1293=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2476773	NM_003285.3(TNR):c.3878C>T (p.Ser1293Leu)	TNR (S1293L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1895404	NM_003285.3(TNR):c.3820C>T (p.Arg1274Cys)	TNR (R1274C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3054367	NM_003285.3(TNR):c.3792G>A (p.Ala1264=)	TNR	Single nucleotide variant (synonymous variant)	TNR-related disorder	GLikely benign
Select item 2526264	NM_003285.3(TNR):c.3769A>C (p.Ile1257Leu)	TNR (I1257L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 708860	NM_003285.3(TNR):c.3754C>T (p.Leu1252=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 799694	NM_003285.3(TNR):c.3714C>T (p.Phe1238=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2480936	NM_003285.3(TNR):c.3697G>A (p.Gly1233Ser)	TNR (G1233S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393292	NM_003285.3(TNR):c.3692G>A (p.Arg1231Gln)	TNR (R898Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220183	NM_003285.3(TNR):c.3610G>A (p.Val1204Met)	TNR (V1204M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333053	NM_003285.3(TNR):c.3608A>G (p.Asn1203Ser)	TNR (N870S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691953	NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp)	TNR (R1192W +1 more)	Single nucleotide variant (missense variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GPathogenic
Select item 2622673	NM_003285.3(TNR):c.3560A>T (p.Gln1187Leu)	TNR (Q854L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239135	NM_003285.3(TNR):c.3537A>G (p.Val1179=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2254298	NM_003285.3(TNR):c.3514A>G (p.Thr1172Ala)	TNR (T839A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770496	NM_003285.3(TNR):c.3440C>T (p.Thr1147Ile)	TNR (T1147I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2455219	NM_003285.3(TNR):c.3370G>A (p.Ala1124Thr)	TNR (A791T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180572	NM_003285.3(TNR):c.3358A>G (p.Ile1120Val)	TNR (I787V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691956	NM_003285.3(TNR):c.3357C>G (p.Ser1119Arg)	TNR (S1119R +1 more)	Single nucleotide variant (missense variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GUncertain significance
Select item 2283393	NM_003285.3(TNR):c.3355A>G (p.Ser1119Gly)	TNR (S786G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180571	NM_003285.3(TNR):c.3344C>A (p.Thr1115Asn)	TNR (T782N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775626	NM_003285.3(TNR):c.3315C>T (p.Tyr1105=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512110	NM_003285.3(TNR):c.3275C>A (p.Thr1092Asn)	TNR (T1092N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2210402	NM_003285.3(TNR):c.3274A>T (p.Thr1092Ser)	TNR (T1092S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180570	NM_003285.3(TNR):c.3238G>A (p.Gly1080Arg)	TNR (G1080R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180569	NM_003285.3(TNR):c.3235G>A (p.Asp1079Asn)	TNR (D746N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471958	NM_003285.3(TNR):c.3214G>A (p.Val1072Ile)	TNR (V739I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2400127	NM_003285.3(TNR):c.3193A>G (p.Arg1065Gly)	TNR (R1065G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775627	NM_003285.3(TNR):c.3171C>T (p.Ala1057=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3351302	NM_003285.3(TNR):c.3118C>T (p.Leu1040Phe)	TNR (L1040F +1 more)	Single nucleotide variant (missense variant)	TNR-related disorder	GUncertain significance
Select item 2365016	NM_003285.3(TNR):c.3088A>G (p.Ser1030Gly)	TNR (S697G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716833	NM_003285.3(TNR):c.3057C>T (p.Ala1019=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3327673	NM_003285.3(TNR):c.3034C>T (p.Leu1012Phe)	TNR (L1012F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360903	NM_003285.3(TNR):c.3020G>A (p.Arg1007Gln)	TNR (R674Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2639573	NM_003285.3(TNR):c.2991C>T (p.Ile997=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413005	NM_003285.3(TNR):c.2987C>T (p.Thr996Ile)	TNR (T663I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3327672	NM_003285.3(TNR):c.2963C>T (p.Thr988Ile)	TNR (T988I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234421	NM_003285.3(TNR):c.2950G>A (p.Val984Ile)	TNR (V651I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3180568	NM_003285.3(TNR):c.2911C>A (p.Leu971Met)	TNR (L638M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397343	NM_003285.3(TNR):c.2879T>C (p.Ile960Thr)	TNR (I627T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2690248	NM_003285.3(TNR):c.2858T>C (p.Met953Thr)	TNR (M620T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	GUncertain significance
Select item 2475217	NM_003285.3(TNR):c.2840C>T (p.Thr947Ile)	TNR (T614I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781666	NM_003285.3(TNR):c.2831G>C (p.Arg944Pro)	TNR (R944P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1686265	NM_003285.3(TNR):c.2818del (p.Glu940fs)	TNR (E607fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	GPathogenic
Select item 3180566	NM_003285.3(TNR):c.2782G>A (p.Glu928Lys)	TNR (E595K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303013	NM_003285.3(TNR):c.2773C>A (p.Pro925Thr)	TNR (P592T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051118	NM_003285.3(TNR):c.2761A>G (p.Thr921Ala)	TNR (T588A +1 more)	Single nucleotide variant (missense variant)	TNR-related disorder	GLikely benign
Select item 691952	NM_003285.3(TNR):c.2744_2745del (p.Val915fs)	TNR (V582fs +1 more)	Microsatellite (frameshift variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GPathogenic
Select item 3067656	NM_003285.3(TNR):c.2720A>C (p.Asp907Ala)	TNR (D574A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691951	NM_003285.3(TNR):c.2713C>T (p.Arg905Ter)	TNR (R572* +1 more)	Single nucleotide variant (nonsense)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GPathogenic
Select item 3180565	NM_003285.3(TNR):c.2657C>G (p.Pro886Arg)	TNR (P886R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1702798	NM_003285.3(TNR):c.2627C>T (p.Thr876Ile)	TNR (T543I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2523824	NM_003285.3(TNR):c.2567T>C (p.Ile856Thr)	TNR (I523T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735601	NM_003285.3(TNR):c.2550A>G (p.Thr850=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180563	NM_003285.3(TNR):c.2524G>T (p.Val842Leu)	TNR (V509L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597908	NM_003285.3(TNR):c.2448G>C (p.Glu816Asp)	TNR (E816D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207103	NM_003285.3(TNR):c.2434G>T (p.Asp812Tyr)	TNR (D479Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476740	NM_003285.3(TNR):c.2408G>C (p.Arg803Thr)	TNR (R470T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484035	NM_003285.3(TNR):c.2371A>G (p.Asn791Asp)	TNR (N458D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805594	NM_003285.3(TNR):c.2324G>A (p.Arg775His)	TNR (R442H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1895405	NM_003285.3(TNR):c.2318-215G>C	TNR	Single nucleotide variant (intron variant)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	GUncertain significance
Select item 752753	NM_003285.3(TNR):c.2230C>T (p.Leu744=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225403	NM_003285.3(TNR):c.2208G>C (p.Arg736Ser)	TNR (R736S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498440	NM_003285.3(TNR):c.2087C>G (p.Ala696Gly)	TNR (A363G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501143	NM_003285.3(TNR):c.2039T>C (p.Met680Thr)	TNR (M347T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511667	NM_003285.3(TNR):c.2026G>A (p.Val676Met)	TNR (V343M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729991	NM_003285.3(TNR):c.2004C>T (p.Ala668=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749509	NM_003285.3(TNR):c.1964-7C>A	TNR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2371381	NM_003285.3(TNR):c.1939C>G (p.Pro647Ala)	TNR (P647A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2410126	NM_003285.3(TNR):c.1936G>C (p.Gly646Arg)	TNR (G646R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691954	NM_003285.3(TNR):c.1899del (p.Glu634fs)	TNR (E301fs +1 more)	Deletion (frameshift variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GPathogenic
Select item 3180562	NM_003285.3(TNR):c.1877T>C (p.Val626Ala)	TNR (V293A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392799	NM_003285.3(TNR):c.1858G>A (p.Glu620Lys)	TNR (E287K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733392	NM_003285.3(TNR):c.1836C>T (p.Leu612=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639574	NM_003285.3(TNR):c.1830T>C (p.Leu610=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463497	NM_003285.3(TNR):c.1814G>A (p.Arg605His)	TNR (R272H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2413000	NM_003285.3(TNR):c.1801C>G (p.Arg601Gly)	TNR (R268G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182395	NM_003285.3(TNR):c.1777+16G>A	TNR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 224861	NM_003285.3(TNR):c.1774A>G (p.Thr592Ala)	TNR (T592A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3367016	NM_003285.3(TNR):c.1760C>T (p.Thr587Ile)	TNR (T254I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	GUncertain significance
Select item 770118	NM_003285.3(TNR):c.1749C>T (p.Ser583=)	TNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180561	NM_003285.3(TNR):c.1735G>A (p.Gly579Arg)	TNR (G246R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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