ClinVar for MedGen (Select 90976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3780708	NM_003235.5(TG):c.6398-1G>A	TG	Single nucleotide variant (splice acceptor variant)	Iodotyrosyl coupling defect	GLikely pathogenic
Select item 3776241	NM_003235.5(TG):c.2338C>T (p.Gln780Ter)	TG (Q780*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect	GLikely pathogenic
Select item 3595281	NM_003235.5(TG):c.7955C>A (p.Ser2652Ter)	TG (S2652*)	Single nucleotide variant (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595279	NM_003235.5(TG):c.7588C>T (p.Arg2530Ter)	TG (R2530*)	Single nucleotide variant (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595278	NM_003235.5(TG):c.7037-2del	TG	Deletion (splice acceptor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595277	NM_003235.5(TG):c.7036+2T>G	TG	Single nucleotide variant (splice donor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595276	NM_003235.5(TG):c.6794G>A (p.Trp2265Ter)	TG (W2265*)	Single nucleotide variant (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595275	NM_003235.5(TG):c.6780_6782+13delinsTGGGATGCCTG	TG	Indel (splice donor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595274	NM_003235.5(TG):c.6562+2T>C	TG	Single nucleotide variant (splice donor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595273	NM_003235.5(TG):c.6562+2T>A	TG	Single nucleotide variant (splice donor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595272	NM_003235.5(TG):c.6562+1G>A	TG	Single nucleotide variant (splice donor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595271	NM_003235.5(TG):c.6391_6394del (p.Leu2131fs)	TG (L2131fs)	Deletion (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GPathogenic
Select item 3595270	NM_003235.5(TG):c.5549-1_5556del	TG	Deletion (splice acceptor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595269	NM_003235.5(TG):c.5367dup (p.Ile1790fs)	TG (I1790fs)	Duplication (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595268	NM_003235.5(TG):c.4670_4671del (p.Glu1557fs)	TG (E1557fs)	Microsatellite (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595267	NM_003235.5(TG):c.4644del (p.Arg1549fs)	TG (R1549fs)	Deletion (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595266	NM_003235.5(TG):c.4434delinsGA (p.Gly1479fs)	TG (G1479fs)	Indel (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595265	NM_003235.5(TG):c.4357del (p.Ser1453fs)	TG (S1453fs)	Deletion (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595264	NM_003235.5(TG):c.4014del (p.Phe1338fs)	TG (F1338fs)	Deletion (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595263	NM_003235.5(TG):c.3871C>T (p.Gln1291Ter)	TG (Q1291*)	Single nucleotide variant (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GPathogenic
Select item 3595262	NM_003235.5(TG):c.3488del (p.Pro1163fs)	TG (P1163fs)	Deletion (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595261	NM_003235.5(TG):c.3331-2A>G	TG	Single nucleotide variant (splice acceptor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595260	NM_003235.5(TG):c.3001+2T>C	TG	Single nucleotide variant (splice donor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595259	NM_003235.5(TG):c.2950G>T (p.Glu984Ter)	TG (E984*)	Single nucleotide variant (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595258	NM_003235.5(TG):c.2898del (p.Asn967fs)	TG (N967fs)	Deletion (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595257	NM_003235.5(TG):c.2761+1G>T	TG	Single nucleotide variant (splice donor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595256	NM_003235.5(TG):c.2266dup (p.Ser756fs)	TG (S756fs)	Duplication (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595255	NM_003235.5(TG):c.2008C>T (p.Gln670Ter)	TG (Q670*)	Single nucleotide variant (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595254	NM_003235.5(TG):c.1911G>A (p.Trp637Ter)	TG (W637*)	Single nucleotide variant (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GPathogenic
Select item 3595253	NM_003235.5(TG):c.1830_1831del (p.Gln610fs)	TG (Q610fs)	Deletion (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595252	NM_003235.5(TG):c.1502dup (p.Gln502fs)	TG (Q502fs)	Duplication (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595251	NM_003235.5(TG):c.1425_1426dup (p.Phe476fs)	TG (F476fs)	Duplication (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595250	NM_003235.5(TG):c.1072dup (p.Cys358fs)	TG (C358fs)	Duplication (frameshift variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595249	NM_003235.5(TG):c.1042G>T (p.Gly348Ter)	TG (G348*)	Single nucleotide variant (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595248	NM_003235.5(TG):c.773_774del (p.Ile257_Tyr258insTer)	TG	Deletion (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595246	NM_003235.5(TG):c.745+1_745+9delinsATC	TG	Indel (splice donor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595245	NM_003235.5(TG):c.479-2A>G	TG	Single nucleotide variant (splice acceptor variant)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595244	NM_003235.5(TG):c.213G>A (p.Trp71Ter)	TG (W71*)	Single nucleotide variant (nonsense)	Autoimmune thyroid disease, susceptibility to, 3 +1 more	GLikely pathogenic
Select item 3595243	NM_003235.5(TG):c.115G>T (p.Glu39Ter)	TG (E39*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect +2 more	GPathogenic/Likely pathogenic
Select item 3238786	NM_003235.5(TG):c.2697G>C (p.Trp899Cys)	TG (W899C)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect +1 more	GUncertain significance
Select item 3065677	NM_003235.5(TG):c.5041+1G>T	TG	Single nucleotide variant (splice donor variant)	Iodotyrosyl coupling defect	GLikely pathogenic
Select item 3010876	NM_003235.5(TG):c.7863-1G>A	TG	Single nucleotide variant (splice acceptor variant)	Iodotyrosyl coupling defect +2 more	GLikely pathogenic
Select item 3004237	NM_003235.5(TG):c.6782+1G>T	TG	Single nucleotide variant (splice donor variant)	Iodotyrosyl coupling defect +2 more	GLikely pathogenic
Select item 2975363	NM_003235.5(TG):c.6517C>T (p.Arg2173Ter)	TG (R2173*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2917695	NM_003235.5(TG):c.4604A>G (p.Asp1535Gly)	TG (D1535G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2910224	NM_003235.5(TG):c.961C>T (p.Arg321Ter)	TG (R321*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect +2 more	GPathogenic
Select item 2834805	NM_003235.5(TG):c.3231C>A (p.Cys1077Ter)	TG (C1077*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect +2 more	GPathogenic/Likely pathogenic
Select item 2800601	NM_003235.5(TG):c.3634+1G>A	TG	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 2735216	NM_003235.5(TG):c.1351C>T (p.Arg451Ter)	TG (R451*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect +2 more	GPathogenic
Select item 2735215	NM_003235.5(TG):c.1348del (p.Ser450fs)	TG (S450fs)	Deletion (frameshift variant)	Iodotyrosyl coupling defect +2 more	GPathogenic
Select item 2735213	NM_003235.5(TG):c.274+2T>G	TG	Single nucleotide variant (splice donor variant)	Iodotyrosyl coupling defect +2 more	GPathogenic
Select item 2713686	NM_003235.5(TG):c.416G>A (p.Trp139Ter)	TG (W139*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2690231	NM_003235.5(TG):c.6550T>A (p.Tyr2184Asn)	TG (Y2184N)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2664860	NM_003235.5(TG):c.6842G>A (p.Cys2281Tyr)	TG (C2281Y)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2664839	NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs)	TG (A2613fs)	Duplication (frameshift variant)	Iodotyrosyl coupling defect	GLikely pathogenic
Select item 2589480	NM_003235.5(TG):c.7222C>T (p.Arg2408Trp)	TG (R2408W)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect +2 more	GUncertain significance
Select item 2442237	NM_003235.5(TG):c.7220T>C (p.Phe2407Ser)	TG (F2407S)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2437067	NM_003235.5(TG):c.8071C>T (p.Arg2691Cys)	TG (R2691C)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2437066	NM_003235.5(TG):c.4856C>T (p.Ser1619Phe)	TG (S1619F)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2437065	NM_003235.5(TG):c.5608C>G (p.Gln1870Glu)	TG (Q1870E)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2437064	NM_003235.5(TG):c.6444A>G (p.Gln2148=)	TG	Single nucleotide variant (synonymous variant)	Iodotyrosyl coupling defect +1 more	GConflicting classifications of pathogenicity
Select item 2437063	NM_003235.5(TG):c.4589G>A (p.Arg1530Gln)	TG (R1530Q)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect +1 more	GUncertain significance
Select item 2437062	NM_003235.5(TG):c.3040G>A (p.Asp1014Asn)	TG (D1014N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2437061	NM_003235.5(TG):c.1451A>T (p.Asn484Ile)	TG (N484I)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2437060	NM_003235.5(TG):c.2936G>A (p.Arg979Gln)	TG (R979Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2437059	NM_003235.5(TG):c.2239T>A (p.Ser747Thr)	TG (S747T)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2437058	NM_003235.5(TG):c.7595G>A (p.Arg2532Gln)	TG (R2532Q)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect +1 more	GUncertain significance
Select item 2437057	NM_003235.5(TG):c.3402G>C (p.Glu1134Asp)	TG (E1134D)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2437056	NM_003235.5(TG):c.6274T>C (p.Ser2092Pro)	TG (S2092P)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2437055	NM_003235.5(TG):c.1273A>G (p.Met425Val)	TG (M425V)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect +1 more	GUncertain significance
Select item 2437054	NM_003235.5(TG):c.3748C>T (p.Arg1250Cys)	TG (R1250C)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2434134	NM_003235.5(TG):c.2311C>T (p.Gln771Ter)	TG (Q771*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1803164	NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)	TG (W2062*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect	GPathogenic
Select item 1802151	NM_003235.5(TG):c.6610del (p.Ser2204fs)	TG (S2204fs)	Deletion (frameshift variant)	Iodotyrosyl coupling defect	GPathogenic
Select item 1802150	NM_003235.5(TG):c.1274T>C (p.Met425Thr)	TG (M425T)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 1697447	NM_003235.5(TG):c.6695C>T (p.Pro2232Leu)	TG (P2232L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 1323687	NM_003235.5(TG):c.6397+2T>A	TG	Single nucleotide variant (splice donor variant)	Iodotyrosyl coupling defect	GPathogenic
Select item 1319035	NM_003235.5(TG):c.3176T>C (p.Ile1059Thr)	TG (I1059T)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect +1 more	GUncertain significance
Select item 1318900	NM_003235.5(TG):c.7501_7502inv (p.Trp2501Gln)	SLA, TG (W2501Q)	Inversion (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1299955	NM_003235.5(TG):c.275G>T (p.Cys92Phe)	TG (C92F)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 1273949	NM_003235.5(TG):c.4002+39C>G	TG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273795	NM_003235.5(TG):c.5401+49G>C	TG	Single nucleotide variant (intron variant)	not provided +1 more	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 1246261	NM_003235.5(TG):c.5234-30C>T	TG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1049665	NM_003235.5(TG):c.6131G>T (p.Arg2044Leu)	TG (R2044L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1031320	NM_003235.5(TG):c.7663C>T (p.Arg2555Cys)	TG (R2555C)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 1031315	NM_003235.5(TG):c.2639C>T (p.Pro880Leu)	TG (P880L)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect +1 more	GUncertain significance
Select item 1028589	NM_003235.5(TG):c.958C>T (p.Arg320Cys)	TG (R320C)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 1028102	NM_003235.5(TG):c.8055G>A (p.Trp2685Ter)	TG (W2685*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect	GPathogenic
Select item 1028101	NM_003235.5(TG):c.6988G>A (p.Val2330Met)	TG (V2330M)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 1028100	NM_003235.5(TG):c.475C>T (p.Arg159Ter)	TG (R159*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect +1 more	GPathogenic/Likely pathogenic
Select item 1028099	NM_003235.5(TG):c.2276A>G (p.Tyr759Cys)	TG (Y759C)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 988643	NM_003235.5(TG):c.5182T>C (p.Cys1728Arg)	TG (C1728R)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect +1 more	GLikely pathogenic
Select item 981843	NM_003235.5(TG):c.3149G>T (p.Trp1050Leu)	TG (W1050L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 917855	NM_003235.5(TG):c.6791G>A (p.Cys2264Tyr)	TG (C2264Y)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GLikely pathogenic
Select item 915466	NM_003235.5(TG):c.48G>A (p.Trp16Ter)	TG (W16*)	Single nucleotide variant (nonsense)	Iodotyrosyl coupling defect	GPathogenic
Select item 912287	NM_003235.5(TG):c.6170C>A (p.Thr2057Asn)	TG (T2057N)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 912286	NM_003235.5(TG):c.6001G>A (p.Asp2001Asn)	TG (D2001N)	Single nucleotide variant (missense variant)	Iodotyrosyl coupling defect +3 more	GUncertain significance
Select item 912285	NM_003235.5(TG):c.5965A>G (p.Ile1989Val)	TG (I1989V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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