ClinVar for MedGen (Select 137968) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233371	NM_005149.3(TBX19):c.604-1G>C	TBX19	Single nucleotide variant (splice acceptor variant)	Congenital isolated adrenocorticotropic hormone deficiency	GLikely pathogenic
Select item 3065757	NM_005149.3(TBX19):c.646_647delinsGC (p.Phe216Ala)	TBX19 (F216A)	Indel (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 3065395	NM_005149.3(TBX19):c.617A>G (p.Lys206Arg)	TBX19 (K206R)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GLikely pathogenic
Select item 2500768	NM_005149.3(TBX19):c.666-2A>T	TBX19	Single nucleotide variant (splice acceptor variant)	Congenital isolated adrenocorticotropic hormone deficiency	GLikely pathogenic
Select item 1687306	NM_005149.3(TBX19):c.665+1G>T	TBX19	Single nucleotide variant (splice donor variant)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 1676659	NM_005149.3(TBX19):c.688G>T (p.Glu230Ter)	TBX19 (E230*)	Single nucleotide variant	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 1645569	NM_005149.3(TBX19):c.603+7GT[17]	TBX19	Microsatellite (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1334932	NM_005149.3(TBX19):c.728-45G>A	TBX19	Single nucleotide variant (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GBenign
Select item 1283918	NM_005149.3(TBX19):c.206G>A (p.Arg69Gln)	TBX19 (R69Q)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GLikely pathogenic
Select item 976452	NM_005149.3(TBX19):c.403T>C (p.Trp135Arg)	TBX19 (W135R)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 876894	NM_005149.3(TBX19):c.*695G>A	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 876893	NM_005149.3(TBX19):c.*587G>C	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 876841	NM_005149.3(TBX19):c.524G>T (p.Gly175Val)	TBX19 (G175V)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 876840	NM_005149.3(TBX19):c.310G>A (p.Val104Ile)	TBX19 (V104I)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GUncertain significance
Select item 875896	NM_005149.3(TBX19):c.*273A>G	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 875895	NM_005149.3(TBX19):c.*258A>C	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 875894	NM_005149.3(TBX19):c.*88G>A	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 875847	NM_005149.3(TBX19):c.-21G>A	TBX19	Single nucleotide variant (5 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GBenign
Select item 874971	NM_005149.3(TBX19):c.1165A>G (p.Thr389Ala)	TBX19 (T389A)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874970	NM_005149.3(TBX19):c.1090G>A (p.Gly364Arg)	TBX19 (G364R)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874094	NM_005149.3(TBX19):c.*1204T>C	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874093	NM_005149.3(TBX19):c.*1026T>C	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874092	NM_005149.3(TBX19):c.*954C>T	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874091	NM_005149.3(TBX19):c.*809A>G	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874041	NM_005149.3(TBX19):c.932G>A (p.Ser311Asn)	TBX19 (S311N)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874040	NM_005149.3(TBX19):c.840G>A (p.Glu280=)	TBX19	Single nucleotide variant (synonymous variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874039	NM_005149.3(TBX19):c.814G>T (p.Ala272Ser)	TBX19 (A272S)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874038	NM_005149.3(TBX19):c.779C>T (p.Ser260Phe)	TBX19 (S260F)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 874037	NM_005149.3(TBX19):c.724C>T (p.His242Tyr)	TBX19 (H242Y)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 828166	NM_005149.3(TBX19):c.608C>T (p.Thr203Met)	TBX19 (T203M)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 828147	NM_005149.3(TBX19):c.377C>T (p.Pro126Leu)	TBX19 (P126L)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 720339	NM_005149.3(TBX19):c.1122C>T (p.His374=)	TBX19	Single nucleotide variant (synonymous variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GBenign
Select item 587393	NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)	RPE65 (Y275*)	Single nucleotide variant (nonsense)	Congenital isolated adrenocorticotropic hormone deficiency +3 more	GPathogenic
Select item 587392	NM_000329.3(RPE65):c.203A>C (p.His68Pro)	RPE65 (H68P)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 587391	NM_000329.3(RPE65):c.722A>G (p.His241Arg)	RPE65 (H241R)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 587390	NM_000329.3(RPE65):c.110G>C (p.Trp37Ser)	RPE65 (W37S)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 561125	NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter)	TBX19 (Y209*)	Single nucleotide variant (nonsense)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GPathogenic
Select item 560677	NM_005149.3(TBX19):c.1310C>T (p.Ala437Val)	TBX19 (A437V)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 560676	NM_005149.3(TBX19):c.916+2T>G	TBX19	Single nucleotide variant (splice donor variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 560675	NM_005149.3(TBX19):c.665+1del	TBX19	Deletion (splice donor variant)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 560674	NM_005149.3(TBX19):c.562G>A (p.Glu188Lys)	TBX19 (E188K)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 560673	NM_005149.3(TBX19):c.265del (p.Leu89fs)	TBX19 (L89fs)	Deletion (frameshift variant)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 560672	NM_005149.3(TBX19):c.158_159del (p.Arg53fs)	TBX19 (R53fs)	Microsatellite (frameshift variant)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 495297	K146R	TBX19	Variation	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 488619	NM_005149.3(TBX19):c.568C>T (p.Gln190Ter)	TBX19 (Q190*)	Single nucleotide variant (nonsense)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 293505	NM_005149.3(TBX19):c.*1325T>C	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293504	NM_005149.3(TBX19):c.*1266C>T	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GLikely benign
Select item 293503	NM_005149.3(TBX19):c.*1251C>T	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293502	NM_005149.3(TBX19):c.*1235G>A	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293501	NM_005149.3(TBX19):c.*1234C>T	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GBenign
Select item 293500	NM_005149.3(TBX19):c.*1230C>T	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293499	NM_005149.3(TBX19):c.*1155C>G	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GBenign
Select item 293498	NM_005149.3(TBX19):c.*1109dup	TBX19	Duplication (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293497	NM_005149.3(TBX19):c.*922GAAA[5]	TBX19	Microsatellite (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GBenign
Select item 293496	NM_005149.3(TBX19):c.*781A>G	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293495	NM_005149.3(TBX19):c.*746A>G	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293494	NM_005149.3(TBX19):c.*654T>G	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293493	NM_005149.3(TBX19):c.*618CTC[1]	TBX19	Microsatellite (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293492	NM_005149.3(TBX19):c.*544G>A	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GBenign
Select item 293491	NM_005149.3(TBX19):c.*479G>C	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GBenign
Select item 293490	NM_005149.3(TBX19):c.*469G>A	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GBenign
Select item 293489	NM_005149.3(TBX19):c.*371C>G	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293488	NM_005149.3(TBX19):c.*363AG[1]	TBX19	Microsatellite (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293487	NM_005149.3(TBX19):c.*267A>G	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GLikely benign
Select item 293486	NM_005149.3(TBX19):c.*251T>C	TBX19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 293485	NM_005149.3(TBX19):c.*243T>C	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293484	NM_005149.3(TBX19):c.*186G>A	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GBenign
Select item 293483	NM_005149.3(TBX19):c.*30G>A	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293482	NM_005149.3(TBX19):c.*26C>G	TBX19	Single nucleotide variant (3 prime UTR variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GBenign
Select item 293481	NM_005149.3(TBX19):c.*21T>A	TBX19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 293480	NM_005149.3(TBX19):c.1147C>T (p.Leu383Phe)	TBX19 (L383F)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293479	NM_005149.3(TBX19):c.1053-11dup	TBX19	Duplication (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293478	NM_005149.3(TBX19):c.959C>T (p.Ser320Leu)	TBX19 (S320L)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293477	NM_005149.3(TBX19):c.917-14G>A	TBX19	Single nucleotide variant (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GBenign
Select item 293476	NM_005149.3(TBX19):c.761T>C (p.Val254Ala)	TBX19 (V254A)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GBenign
Select item 293475	NM_005149.3(TBX19):c.728-7A>G	TBX19	Single nucleotide variant (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293474	NM_005149.3(TBX19):c.603+15G>T	TBX19	Single nucleotide variant (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293473	NM_005149.3(TBX19):c.603+13G>T	TBX19	Single nucleotide variant (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293472	NM_005149.3(TBX19):c.603+11G>T	TBX19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 293471	NM_005149.3(TBX19):c.603+10_603+11insTT	TBX19	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 293470	NM_005149.3(TBX19):c.603+10_603+11insTTGT	TBX19	Insertion (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GBenign/Likely benign
Select item 293469	NM_005149.3(TBX19):c.603+7GT[18]	TBX19	Microsatellite (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293468	NM_005149.3(TBX19):c.603+7GT[19]	TBX19	Microsatellite (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293467	NM_005149.3(TBX19):c.603+7GT[20]	TBX19	Microsatellite (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293466	NM_005149.3(TBX19):c.603+10_603+11insTTGTGT	TBX19	Insertion (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293465	NM_005149.3(TBX19):c.603+7GT[25]	TBX19	Microsatellite (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293464	NM_005149.3(TBX19):c.603+7GT[24]	TBX19	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293463	NM_005149.3(TBX19):c.603+7GT[23]	TBX19	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293462	NM_005149.3(TBX19):c.603+7GT[22]	TBX19	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293461	NM_005149.3(TBX19):c.603+6_603+7insCTGTGT	TBX19	Insertion (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293460	NM_005149.3(TBX19):c.597T>C (p.Asn199=)	TBX19	Single nucleotide variant (synonymous variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293459	NM_005149.3(TBX19):c.536G>A (p.Arg179Gln)	TBX19 (R179Q)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293458	NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)	TBX19 (R179*)	Single nucleotide variant (nonsense)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293457	NM_005149.3(TBX19):c.315C>T (p.Asn105=)	TBX19	Single nucleotide variant (synonymous variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 293456	NM_005149.3(TBX19):c.204-3T>C	TBX19	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 293455	NM_005149.3(TBX19):c.194A>G (p.Lys65Arg)	TBX19 (K65R)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 293454	NM_005149.3(TBX19):c.105C>T (p.Asp35=)	TBX19	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 293453	NM_005149.3(TBX19):c.39T>G (p.Asp13Glu)	TBX19 (D13E)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 5443	NM_005149.3(TBX19):c.782del (p.Asn261fs)	TBX19 (N261fs)	Deletion (frameshift variant)	TBX19-related disorder +2 more	GPathogenic
Select item 5442	NM_005149.3(TBX19):c.257T>G (p.Met86Arg)	TBX19 (M86R)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic

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