TBX19[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
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 3034929	NM_005149.3(TBX19):c.-3C>T	TBX19	Single nucleotide variant (5 prime UTR variant)	TBX19-related disorder	GLikely benign
Select item 2832885	NM_005149.3(TBX19):c.21C>A (p.Gly7=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2464886	NM_005149.3(TBX19):c.62A>G (p.Asn21Ser)	TBX19 (N21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520566	NM_005149.3(TBX19):c.75_78del (p.Glu26fs)	TBX19 (E26fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 739745	NM_005149.3(TBX19):c.78G>A (p.Glu26=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2551889	NM_005149.3(TBX19):c.95A>C (p.Glu32Ala)	TBX19 (E32A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231712	NM_005149.3(TBX19):c.100G>C (p.Gly34Arg)	TBX19 (G34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 560672	NM_005149.3(TBX19):c.158_159del (p.Arg53fs)	TBX19 (R53fs)	Microsatellite (frameshift variant)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
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 2969623	NM_005149.3(TBX19):c.203+20C>T	TBX19	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 633477	NM_005149.3(TBX19):c.210G>T (p.Met70Ile)	TBX19 (M70I)	Single nucleotide variant (missense variant)	Adrenal insufficiency	GUncertain significance
Select item 2160792	NM_005149.3(TBX19):c.226A>T (p.Ile76Phe)	TBX19 (I76F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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
Select item 2979522	NM_005149.3(TBX19):c.261C>T (p.Tyr87=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560673	NM_005149.3(TBX19):c.265del (p.Leu89fs)	TBX19 (L89fs)	Deletion (frameshift variant)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 1968659	NM_005149.3(TBX19):c.290A>G (p.Asp97Gly)	TBX19 (D97G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514073	NM_005149.3(TBX19):c.298C>T (p.Arg100Cys)	TBX19 (R100C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907808	NM_005149.3(TBX19):c.309C>T (p.Tyr103=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1425168	NM_005149.3(TBX19):c.359G>A (p.Ser120Asn)	TBX19 (S120N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598565	NM_005149.3(TBX19):c.369C>T (p.Tyr123=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 5441	NM_005149.3(TBX19):c.383C>T (p.Ser128Phe)	TBX19 (S128F)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 1314595	NM_005149.3(TBX19):c.389A>G (p.Asn130Ser)	TBX19 (N130S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2416655	NM_005149.3(TBX19):c.455A>G (p.Asn152Ser)	TBX19 (N152S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 710912	NM_005149.3(TBX19):c.462C>T (p.Gly154=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1988259	NM_005149.3(TBX19):c.468+13C>T	TBX19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 633476	NM_005149.3(TBX19):c.477G>C (p.Leu159Phe)	TBX19 (L159F)	Single nucleotide variant (missense variant)	Adrenal insufficiency	GUncertain significance
Select item 2304773	NM_005149.3(TBX19):c.520G>C (p.Val174Leu)	TBX19 (V174L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2144752	NM_005149.3(TBX19):c.520G>T (p.Val174Phe)	TBX19 (V174F)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 2877656	NM_005149.3(TBX19):c.567C>G (p.Thr189=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2059963	NM_005149.3(TBX19):c.579C>T (p.Ala193=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547784	NM_005149.3(TBX19):c.580G>A (p.Val194Met)	TBX19 (V194M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 978567	NM_005149.3(TBX19):c.603+6delinsGTGTTTGT	TBX19	Indel (intron variant)	Pituitary stalk interruption syndrome	GUncertain significance
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 2075176	NM_005149.3(TBX19):c.603+7GT[16]	TBX19	Microsatellite (intron variant)	not provided	GLikely benign
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 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 293471	NM_005149.3(TBX19):c.603+10_603+11insTT	TBX19	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 293472	NM_005149.3(TBX19):c.603+11G>T	TBX19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 1628831	NM_005149.3(TBX19):c.603+17G>T	TBX19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628835	NM_005149.3(TBX19):c.603+19G>T	TBX19	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 828166	NM_005149.3(TBX19):c.608C>T (p.Thr203Met)	TBX19 (T203M)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
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 2022910	NM_005149.3(TBX19):c.624G>T (p.Lys208Asn)	TBX19 (K208N)	Single nucleotide variant (missense variant)	not provided	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 3174942	NM_005149.3(TBX19):c.629A>G (p.Asn210Ser)	TBX19 (N210S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2263474	NM_005149.3(TBX19):c.651G>C (p.Leu217Phe)	TBX19 (L217F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1687306	NM_005149.3(TBX19):c.665+1G>T	TBX19	Single nucleotide variant (splice donor variant)	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
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 2464600	NM_005149.3(TBX19):c.682G>A (p.Val228Ile)	TBX19 (V228I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2168534	NM_005149.3(TBX19):c.710A>G (p.His237Arg)	TBX19 (H237R)	Single nucleotide variant (missense variant)	not provided +1 more	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 3340178	NM_005149.3(TBX19):c.727+1G>A	TBX19	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1991284	NM_005149.3(TBX19):c.727+16A>C	TBX19	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 293475	NM_005149.3(TBX19):c.728-7A>G	TBX19	Single nucleotide variant (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 2536993	NM_005149.3(TBX19):c.752C>T (p.Pro251Leu)	TBX19 (P251L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2228783	NM_005149.3(TBX19):c.766A>C (p.Thr256Pro)	TBX19 (T256P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 5443	NM_005149.3(TBX19):c.782del (p.Asn261fs)	TBX19 (N261fs)	Deletion (frameshift variant)	TBX19-related disorder +2 more	GPathogenic
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 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 5440	NM_005149.3(TBX19):c.856C>T (p.Arg286Ter)	TBX19 (R286*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3324851	NM_005149.3(TBX19):c.881C>G (p.Pro294Arg)	TBX19 (P294R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 293477	NM_005149.3(TBX19):c.917-14G>A	TBX19	Single nucleotide variant (intron variant)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GBenign

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