"PreventionGenetics, part of Exact Sciences"[submitter] AND "TSHR"[gen - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032261	NM_000369.5(TSHR):c.-6T>A	CEP128, TSHR	Single nucleotide variant (5 prime UTR variant)	TSHR-related disorder	GLikely benign
Select item 6430	NM_000369.5(TSHR):c.106G>C (p.Asp36His)	TSHR, CEP128 (D36H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 135392	NM_000369.5(TSHR):c.154C>A (p.Pro52Thr)	CEP128, TSHR (P52T)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +4 more	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 420145	NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro)	TSHR (Q90P)	Indel (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2969580	NM_000369.5(TSHR):c.305_306del (p.Lys102fs)	TSHR (K102fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2632279	NM_000369.5(TSHR):c.406_407del (p.Thr136fs)	TSHR (T136fs)	Microsatellite (frameshift variant)	TSHR-related disorder	GLikely pathogenic
Select item 3053994	NM_000369.5(TSHR):c.480C>A (p.Asp160Glu)	TSHR (D160E)	Single nucleotide variant (missense variant)	TSHR-related disorder	GUncertain significance
Select item 3018999	NM_000369.5(TSHR):c.495G>A (p.Thr165=)	TSHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 255952	NM_000369.5(TSHR):c.545+13A>G	TSHR	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255953	NM_000369.5(TSHR):c.561T>C (p.Asn187=)	TSHR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 255954	NM_000369.5(TSHR):c.615-31TC[8]	TSHR	Microsatellite (intron variant)	not specified	GBenign
Select item 218440	NM_000369.5(TSHR):c.881+3A>G	TSHR	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 887198	NM_000369.5(TSHR):c.891G>A (p.Glu297=)	TSHR	Single nucleotide variant (synonymous variant)	TSHR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 135401	NM_000369.5(TSHR):c.929G>A (p.Arg310His)	TSHR (R310H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 745091	NM_000369.5(TSHR):c.1206C>T (p.Ser402=)	TSHR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 255951	NM_000369.5(TSHR):c.1377G>A (p.Ala459=)	TSHR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2644431	NM_000369.5(TSHR):c.1524G>A (p.Ser508=)	TSHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 724913	NM_000369.5(TSHR):c.1533G>A (p.Thr511=)	TSHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 135394	NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)	TSHR (R534C)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +4 more	GConflicting classifications of pathogenicity
Select item 6439	NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)	TSHR (W546*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2634929	NM_000369.5(TSHR):c.1657G>T (p.Ala553Ser)	TSHR (A553S)	Single nucleotide variant (missense variant)	TSHR-related disorder	GUncertain significance
Select item 6445	NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)	TSHR (A553T)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +4 more	GConflicting classifications of pathogenicity
Select item 704856	NM_000369.5(TSHR):c.1935G>A (p.Leu645=)	TSHR	Single nucleotide variant (synonymous variant)	TSHR-related disorder +1 more	GBenign
Select item 2975835	NM_000369.5(TSHR):c.2046C>T (p.Thr682=)	TSHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 697399	NM_000369.5(TSHR):c.2124G>T (p.Gly708=)	TSHR	Single nucleotide variant (synonymous variant)	TSHR-related disorder +1 more	GBenign/Likely benign
Select item 135400	NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp)	TSHR (E727D)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +4 more	GBenign/Likely benign
Select item 135396	NM_000369.5(TSHR):c.2232C>G (p.Asn744Lys)	TSHR (N744K)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +3 more	GBenign/Likely benign
Select item 2636082	NM_000369.5(TSHR):c.2234C>G (p.Ser745Cys)	TSHR (S745C)	Single nucleotide variant (missense variant)	TSHR-related disorder	GUncertain significance

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Items: 29