7253[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 149273	GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3	CEP128, DIO2 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 149092	GRCh38/hg38 14q31.1(chr14:80454755-81069410)x1	CEP128, DIO2-AS1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 885227	NM_000369.2(TSHR):c.-166C>T	CEP128, TSHR	Single nucleotide variant	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 885228	NM_000369.2(TSHR):c.-102C>T	CEP128, TSHR	Single nucleotide variant	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 314689	NM_000369.5(TSHR):c.-60G>A	TSHR, CEP128	Single nucleotide variant (5 prime UTR variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GConflicting classifications of pathogenicity
Select item 3032261	NM_000369.5(TSHR):c.-6T>A	TSHR, CEP128	Single nucleotide variant (5 prime UTR variant)	TSHR-related disorder	GLikely benign
Select item 3329578	NM_000369.5(TSHR):c.13G>A (p.Asp5Asn)	CEP128, TSHR (D5N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 631719	NM_000369.5(TSHR):c.20_23dup (p.Gln8fs)	CEP128, TSHR (Q8fs)	Duplication (frameshift variant)	TSHR-related disorder	GUncertain significance
Select item 2770278	NM_000369.5(TSHR):c.22C>T (p.Gln8Ter)	CEP128, TSHR (Q8*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2890155	NM_000369.5(TSHR):c.51G>A (p.Arg17=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751832	NM_000369.5(TSHR):c.55C>T (p.Leu19=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866199	NM_000369.5(TSHR):c.60C>T (p.Gly20=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758159	NM_000369.5(TSHR):c.63A>G (p.Gly21=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696574	NM_000369.5(TSHR):c.69del (p.Cys24fs)	CEP128, TSHR (C24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2901036	NM_000369.5(TSHR):c.87C>A (p.Cys29Ter)	CEP128, TSHR (C29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2372295	NM_000369.5(TSHR):c.87C>G (p.Cys29Trp)	CEP128, TSHR (C29W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2987268	NM_000369.5(TSHR):c.90G>A (p.Glu30=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838450	NM_000369.5(TSHR):c.93C>T (p.Cys31=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3329574	NM_000369.5(TSHR):c.94C>T (p.His32Tyr)	CEP128, TSHR (H32Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886125	NM_000369.5(TSHR):c.100G>A (p.Glu34Lys)	CEP128, TSHR (E34K)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +4 more	GConflicting classifications of pathogenicity
Select item 6430	NM_000369.5(TSHR):c.106G>C (p.Asp36His)	CEP128, TSHR (D36H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2907711	NM_000369.5(TSHR):c.120C>A (p.Thr40=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6442	NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)	CEP128, TSHR (C41S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3183666	NM_000369.5(TSHR):c.134A>G (p.Gln45Arg)	CEP128, TSHR (Q45R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2694678	NM_000369.5(TSHR):c.144C>T (p.Pro48=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 135391	NM_000369.5(TSHR):c.145A>G (p.Ser49Gly)	CEP128, TSHR (S49G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2789423	NM_000369.5(TSHR):c.148T>C (p.Leu50=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021577	NM_000369.5(TSHR):c.153G>T (p.Pro51=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 135392	NM_000369.5(TSHR):c.154C>A (p.Pro52Thr)	CEP128, TSHR (P52T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 314690	NM_000369.5(TSHR):c.157A>C (p.Ser53Arg)	CEP128, TSHR (S53R)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 1310972	NM_000369.5(TSHR):c.167C>T (p.Thr56Ile)	CEP128, TSHR (T56I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303548	NM_000369.5(TSHR):c.170T>C (p.Leu57Pro)	CEP128, TSHR (L57P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2690769	NM_000369.5(TSHR):c.170+1G>C	CEP128, TSHR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 742156	NM_000369.5(TSHR):c.170+10C>T	CEP128, TSHR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2977507	NM_000369.5(TSHR):c.170+11G>A	CEP128, TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001029	NM_000369.5(TSHR):c.170+15G>T	CEP128, TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990903	NM_000369.5(TSHR):c.170+16A>C	CEP128, TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803884	NM_000369.5(TSHR):c.170+20C>G	CEP128, TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234822	NM_000369.5(TSHR):c.170+63G>C	CEP128, TSHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644429	NM_000369.5(TSHR):c.170+35739C>T	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277985	NM_000369.5(TSHR):c.171-80T>A	TSHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2967210	NM_000369.5(TSHR):c.171-20T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820943	NM_000369.5(TSHR):c.171-20T>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717206	NM_000369.5(TSHR):c.171-20del	TSHR	Deletion (intron variant)	not provided	GLikely benign
Select item 2784097	NM_000369.5(TSHR):c.171-13_171-12del	TSHR	Deletion (intron variant)	not provided	GLikely benign
Select item 2876321	NM_000369.5(TSHR):c.171-13G>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 314691	NM_000369.5(TSHR):c.171-11T>C	TSHR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3018283	NM_000369.5(TSHR):c.174G>A (p.Lys58=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911587	NM_000369.5(TSHR):c.183G>A (p.Glu61=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010509	NM_000369.5(TSHR):c.189C>T (p.His63=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887132	NM_000369.5(TSHR):c.190C>T (p.Leu64=)	TSHR	Single nucleotide variant (synonymous variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 730745	NM_000369.5(TSHR):c.192G>A (p.Leu64=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887133	NM_000369.5(TSHR):c.197C>A (p.Thr66Asn)	TSHR (T66N)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 2740329	NM_000369.5(TSHR):c.201T>C (p.Ile67=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 437071	NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)	TSHR (P68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2891957	NM_000369.5(TSHR):c.210T>C (p.His70=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961621	NM_000369.5(TSHR):c.219T>G (p.Ser73=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959666	NM_000369.5(TSHR):c.219T>C (p.Ser73=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797476	NM_000369.5(TSHR):c.225G>T (p.Leu75=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908152	NM_000369.5(TSHR):c.242+12dup	TSHR	Duplication (intron variant)	not provided	GBenign
Select item 2784222	NM_000369.5(TSHR):c.242+12del	TSHR	Deletion (intron variant)	not provided	GBenign
Select item 2637387	NM_000369.5(TSHR):c.242+6T>G	TSHR	Single nucleotide variant (intron variant)	TSHR-related disorder	GUncertain significance
Select item 2805946	NM_000369.5(TSHR):c.242+15T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803416	NM_000369.5(TSHR):c.242+16A>G	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978396	NM_000369.5(TSHR):c.242+22_242+26del	TSHR	Deletion (intron variant)	not provided	GLikely benign
Select item 1289534	NM_000369.5(TSHR):c.243-158T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2992444	NM_000369.5(TSHR):c.243-20T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973149	NM_000369.5(TSHR):c.243-18T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848030	NM_000369.5(TSHR):c.243-15T>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757745	NM_000369.5(TSHR):c.243-12T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972374	NM_000369.5(TSHR):c.243-4T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994757	NM_000369.5(TSHR):c.246C>T (p.Tyr82=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976146	NM_000369.5(TSHR):c.258T>C (p.Asp86=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627995	NM_000369.5(TSHR):c.263C>T (p.Thr88Ile)	TSHR (T88I)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2895105	NM_000369.5(TSHR):c.264T>A (p.Thr88=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824743	NM_000369.5(TSHR):c.264T>C (p.Thr88=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 420145	NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro)	TSHR (Q90P)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 2757754	NM_000369.5(TSHR):c.268C>T (p.Gln90Ter)	TSHR (Q90*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3336427	NM_000369.5(TSHR):c.269A>C (p.Gln90Pro)	TSHR (Q90P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2979766	NM_000369.5(TSHR):c.276G>A (p.Leu92=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826378	NM_000369.5(TSHR):c.282A>G (p.Ser94=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976556	NM_000369.5(TSHR):c.285C>T (p.His95=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445353	NM_000369.5(TSHR):c.289T>G (p.Phe97Val)	TSHR (F97V)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 3252999	NM_000369.5(TSHR):c.290T>C (p.Phe97Ser)	TSHR (F97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738381	NM_000369.5(TSHR):c.298T>C (p.Leu100=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756593	NM_000369.5(TSHR):c.303T>C (p.Ser101=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969580	NM_000369.5(TSHR):c.305_306del (p.Lys102fs)	TSHR (K102fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3021464	NM_000369.5(TSHR):c.315C>T (p.His105=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976864	NM_000369.5(TSHR):c.317+20C>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994158	NM_000369.5(TSHR):c.318-5T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008049	NM_000369.5(TSHR):c.318-1G>A	TSHR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 6438	NM_000369.5(TSHR):c.326G>A (p.Arg109Gln)	TSHR (R109Q)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GPathogenic/Likely pathogenic
Select item 2445311	NM_000369.5(TSHR):c.332C>T (p.Thr111Ile)	TSHR (T111I)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2969680	NM_000369.5(TSHR):c.354C>T (p.Asp118=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 314692	NM_000369.5(TSHR):c.357T>A (p.Pro119=)	TSHR	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity

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