TG[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57119	GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1	ADCY8, ASAP1 +131 more	Copy number loss	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 29906	NM_003235.4(TG):c.-1623A>G	TG	Single nucleotide variant	Autoimmune thyroid disease, susceptibility to, 3	Grisk factor
Select item 909865	NM_003235.4(TG):c.-55G>A	TG	Single nucleotide variant	Iodotyrosyl coupling defect	GUncertain significance
Select item 1333496	NM_003235.5(TG):c.3G>T (p.Met1Ile)	TG (M1I)	Single nucleotide variant (missense variant +1 more)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2781284	NM_003235.5(TG):c.6C>T (p.Ala2=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860363	NM_003235.5(TG):c.9G>C (p.Leu3=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989569	NM_003235.5(TG):c.12C>A (p.Val4=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3176586	NM_003235.5(TG):c.26C>T (p.Thr9Ile)	TG (T9I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2749478	NM_003235.5(TG):c.30G>A (p.Leu10=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 915466	NM_003235.5(TG):c.48G>A (p.Trp16Ter)	TG (W16*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect	GPathogenic
Select item 2727459	NM_003235.5(TG):c.54G>A (p.Ser18=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726990	NM_003235.5(TG):c.60T>C (p.Asn20=)	TG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 361906	NM_003235.5(TG):c.66C>T (p.Phe22=)	TG	Single nucleotide variant (synonymous variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 3005979	NM_003235.5(TG):c.67+7T>C	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968886	NM_003235.5(TG):c.67+10G>T	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785520	NM_003235.5(TG):c.67+13G>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959419	NM_003235.5(TG):c.67+17T>C	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246076	NM_003235.5(TG):c.68-148G>A	TG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271560	NM_003235.5(TG):c.68-26T>C	TG	Single nucleotide variant (intron variant)	Iodotyrosyl coupling defect +1 more	GBenign
Select item 3011502	NM_003235.5(TG):c.68-6T>C	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864375	NM_003235.5(TG):c.68-4C>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844374	NM_003235.5(TG):c.73C>T (p.Gln25Ter)	TG (Q25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2777589	NM_003235.5(TG):c.78G>C (p.Val26=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233451	NM_003235.5(TG):c.83C>T (p.Ala28Val)	TG (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 452123	NM_003235.5(TG):c.85C>T (p.Gln29Ter)	TG (Q29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2791603	NM_003235.5(TG):c.90C>T (p.Pro30=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 909866	NM_003235.5(TG):c.94C>T (p.Arg32Cys)	TG (R32C)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 774249	NM_003235.5(TG):c.105G>A (p.Glu35=)	TG	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2979251	NM_003235.5(TG):c.108G>T (p.Leu36=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2214853	NM_003235.5(TG):c.116A>G (p.Glu39Gly)	TG (E39G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2966016	NM_003235.5(TG):c.117A>G (p.Glu39=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303088	NM_003235.5(TG):c.119C>A (p.Thr40Lys)	TG (T40K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2898164	NM_003235.5(TG):c.120G>A (p.Thr40=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895237	NM_003235.5(TG):c.132G>A (p.Lys44=)	TG	Single nucleotide variant (synonymous variant)	TG-related disorder +1 more	GLikely benign
Select item 909867	NM_003235.5(TG):c.138A>G (p.Ala46=)	TG	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 756068	NM_003235.5(TG):c.138A>C (p.Ala46=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436995	NM_003235.5(TG):c.144C>T (p.Tyr48=)	TG	Single nucleotide variant (synonymous variant)	Iodotyrosyl coupling defect +3 more	GConflicting classifications of pathogenicity
Select item 3176579	NM_003235.5(TG):c.145G>A (p.Val49Met)	TG (V49M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2789679	NM_003235.5(TG):c.147G>C (p.Val49=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817507	NM_003235.5(TG):c.150C>G (p.Pro50=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791451	NM_003235.5(TG):c.151C>T (p.Gln51Ter)	TG (Q51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 909868	NM_003235.5(TG):c.160G>C (p.Glu54Gln)	TG (E54Q)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 3006427	NM_003235.5(TG):c.171C>T (p.Ser57=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709816	NM_003235.5(TG):c.176+9T>C	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956644	NM_003235.5(TG):c.176+12G>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980823	NM_003235.5(TG):c.176+20C>T	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879853	NM_003235.5(TG):c.177-19G>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821708	NM_003235.5(TG):c.177-13G>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992581	NM_003235.5(TG):c.177-11C>T	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2629607	NM_003235.5(TG):c.184C>A (p.Gln62Lys)	TG (Q62K)	Single nucleotide variant (missense variant)	TG-related disorder	GUncertain significance
Select item 756127	NM_003235.5(TG):c.195C>T (p.Asn65=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 361907	NM_003235.5(TG):c.198C>T (p.Asp66=)	TG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 781146	NM_003235.5(TG):c.199G>A (p.Gly67Ser)	TG (G67S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 377172	NM_003235.5(TG):c.217G>A (p.Val73Met)	TG (V73M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756955	NM_003235.5(TG):c.225C>A (p.Ala75=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889163	NM_003235.5(TG):c.228C>T (p.Asn76=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436996	NM_003235.5(TG):c.229G>A (p.Gly77Ser)	TG (G77S)	Single nucleotide variant (missense variant)	TG-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2840124	NM_003235.5(TG):c.246C>G (p.Gly82=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658824	NM_003235.5(TG):c.246C>T (p.Gly82=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011286	NM_003235.5(TG):c.252G>A (p.Arg84=)	TG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856005	NM_003235.5(TG):c.253C>T (p.Gln85Ter)	TG (Q85*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3176585	NM_003235.5(TG):c.263G>A (p.Arg88Gln)	TG (R88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436997	NM_003235.5(TG):c.266dup (p.Val90fs)	TG (V90fs)	Duplication (frameshift variant)	Iodotyrosyl coupling defect	GPathogenic
Select item 2976894	NM_003235.5(TG):c.274+1G>A	TG	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2735213	NM_003235.5(TG):c.274+2T>G	TG	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2869980	NM_003235.5(TG):c.274+13G>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965621	NM_003235.5(TG):c.274+14G>C	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839563	NM_003235.5(TG):c.274+15G>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757278	NM_003235.5(TG):c.274+15G>C	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781902	NM_003235.5(TG):c.274+16G>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964533	NM_003235.5(TG):c.274+17G>A	TG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2972462	NM_003235.5(TG):c.274+19C>T	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873653	NM_003235.5(TG):c.274+19_274+20insTTACACTTACAAGGGAGTAAGGG	TG	Insertion (intron variant)	not provided	GLikely benign
Select item 2968801	NM_003235.5(TG):c.274+20G>C	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958108	NM_003235.5(TG):c.274+20G>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963277	NM_003235.5(TG):c.275-17G>A	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008176	NM_003235.5(TG):c.275-16C>T	TG	Single nucleotide variant (intron variant)	not provided	GLikely benign

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