thyrotropin receptor - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331310	NM_001206744.2(TPO):c.650A>G (p.Asn217Ser)	TPO (N217S)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +2 more	GUncertain significance
Select item 16250	NM_000145.4(FSHR):c.1699G>A (p.Asp567Asn)	FSHR (D567N +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome	GPathogenic
Select item 12571	NM_001354712.2(THRB):c.1305dup (p.Ala436fs)	THRB (A436fs +2 more)	Duplication (frameshift variant)	Selective pituitary resistance to thyroid hormone	GPathogenic
Select item 12568	NM_001354712.2(THRB):c.1148G>A (p.Arg383His)	THRB (R383H +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GPathogenic
Select item 12558	NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp)	THRB (R338W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12569	NM_001354712.2(THRB):c.1009A>G (p.Thr337Ala)	THRB (T337A +1 more)	Single nucleotide variant (missense variant)	Selective pituitary resistance to thyroid hormone	GPathogenic
Select item 12562	NM_001354712.2(THRB):c.959G>T (p.Arg320Leu)	THRB (R320L +1 more)	Single nucleotide variant (missense variant)	Selective pituitary resistance to thyroid hormone	GPathogenic
Select item 12557	NM_001354712.2(THRB):c.958C>T (p.Arg320Cys)	THRB (R320C +1 more)	Single nucleotide variant (missense variant)	Selective pituitary resistance to thyroid hormone +3 more	GPathogenic
Select item 12555	NM_001354712.2(THRB):c.947G>A (p.Arg316His)	THRB (R316H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 902712	NM_001354712.2(THRB):c.743A>G (p.Glu248Gly)	THRB (E217G +1 more)	Single nucleotide variant (missense variant)	Selective pituitary resistance to thyroid hormone +1 more	GUncertain significance
Select item 2636480	NM_001354712.2(THRB):c.740C>T (p.Pro247Leu)	THRB (P216L +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder	GLikely pathogenic
Select item 12566	NM_001354712.2(THRB):c.728G>A (p.Arg243Gln)	LOC126806630, THRB (R243Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 723156	NM_001354712.2(THRB):c.175A>G (p.Ile59Val)	THRB (I28V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 58431	GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3	ANGPT1, EBAG9 +32 more	Copy number gain	See cases	GUncertain significance
Select item 153936	GRCh38/hg38 8q23.1-23.2(chr8:108988194-109697085)x3	EBAG9, ENY2 +15 more	Copy number gain	See cases	GLikely benign
Select item 3055065	NM_003301.7(TRHR):c.9C>T (p.Asn3=)	TRHR	Single nucleotide variant (synonymous variant)	TRHR-related disorder	GLikely benign
Select item 2454554	NM_003301.7(TRHR):c.35C>T (p.Thr12Ile)	TRHR (T12I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12682	NM_003301.7(TRHR):c.49C>T (p.Arg17Ter)	TRHR (R17*)	Single nucleotide variant (nonsense)	Hypothyroidism, congenital, nongoitrous, 7	GPathogenic
Select item 715012	NM_003301.7(TRHR):c.123A>G (p.Val41=)	TRHR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2658747	NM_003301.7(TRHR):c.151A>C (p.Met51Leu)	TRHR (M51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3182157	NM_003301.7(TRHR):c.232G>A (p.Ala78Thr)	TRHR (A78T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689395	NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)	TRHR (P81R)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 7	GLikely pathogenic
Select item 3182158	NM_003301.7(TRHR):c.290G>C (p.Gly97Ala)	TRHR (G97A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350524	NM_003301.7(TRHR):c.301A>G (p.Ile101Val)	TRHR (I101V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12681	NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)	TRHR	Indel (inframe_indel)	Hypothyroidism, congenital, nongoitrous, 7	GLikely pathogenic
Select item 725251	NM_003301.7(TRHR):c.379A>G (p.Ile127Val)	TRHR (I127V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 689396	NM_003301.7(TRHR):c.392T>C (p.Ile131Thr)	TRHR (I131T)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 7	GPathogenic
Select item 2303542	NM_003301.7(TRHR):c.432G>C (p.Lys144Asn)	TRHR (K144N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792670	NM_003301.7(TRHR):c.489G>A (p.Leu163=)	TRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286902	NM_003301.7(TRHR):c.533C>A (p.Ser178Tyr)	TRHR (S178Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252665	NM_003301.7(TRHR):c.677A>C (p.Asp226Ala)	TRHR (D226A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035107	NM_003301.7(TRHR):c.708T>C (p.Asn236=)	TRHR	Single nucleotide variant (synonymous variant)	TRHR-related disorder	GLikely benign
Select item 2340825	NM_003301.7(TRHR):c.928T>C (p.Tyr310His)	TRHR (Y310H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182156	NM_003301.7(TRHR):c.1025C>T (p.Thr342Ile)	TRHR (T342I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721055	NM_003301.7(TRHR):c.1066G>A (p.Val356Ile)	TRHR (V356I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724151	NM_003301.7(TRHR):c.1149T>C (p.Ser383=)	TRHR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3338942	NM_003301.7(TRHR):c.1177G>C (p.Val393Leu)	TRHR (V393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527461	GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)	AARD, ABRA +28 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979849	GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3	AARD, ANGPT1 +35 more	Copy number gain	not provided	GPathogenic
Select item 979848	GRCh37/hg19 8q23.1(chr8:109694757-110374218)x3	ENY2, NUDCD1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815151	GRCh37/hg19 8q23.1-23.2(chr8:109858221-110567774)x1	PKHD1L1, ENY2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 686772	GRCh37/hg19 8q23.1(chr8:110059050-110132754)x1	TRHR	Copy number loss	not provided	GPathogenic
Select item 686305	GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1	ABRA, ANGPT1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 523291	GRCh37/hg19 8q23.1(chr8:109990022-110168343)	TRHR	Copy number loss	Delayed speech and language development +8 more	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688046	GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1	LGR5, PTPRR +8 more	Copy number loss	not provided	GUncertain significance
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic

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