ClinVar for Gene (Select 9095) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 183

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361868	NM_005149.3(TBX19):c.146C>T (p.Pro49Leu)	TBX19 (P49L)	Single nucleotide variant (missense variant)	not provided	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 3324851	NM_005149.3(TBX19):c.881C>G (p.Pro294Arg)	TBX19 (P294R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324850	NM_005149.3(TBX19):c.1040A>G (p.Asn347Ser)	TBX19 (N347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324849	NM_005149.3(TBX19):c.1096C>T (p.Pro366Ser)	TBX19 (P366S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3174943	NM_005149.3(TBX19):c.937A>C (p.Ser313Arg)	TBX19 (S313R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3174941	NM_005149.3(TBX19):c.1289C>T (p.Ala430Val)	TBX19 (A430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174940	NM_005149.3(TBX19):c.1102G>T (p.Gly368Trp)	TBX19 (G368W)	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 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 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
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 2979522	NM_005149.3(TBX19):c.261C>T (p.Tyr87=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969623	NM_005149.3(TBX19):c.203+20C>T	TBX19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959026	NM_005149.3(TBX19):c.1278G>A (p.Ser426=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877656	NM_005149.3(TBX19):c.567C>G (p.Thr189=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	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 2820994	NM_005149.3(TBX19):c.1065C>T (p.Cys355=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2623631	NM_005149.3(TBX19):c.1030G>A (p.Gly344Arg)	TBX19 (G344R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615405	NM_005149.3(TBX19):c.1271T>C (p.Val424Ala)	TBX19 (V424A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2547784	NM_005149.3(TBX19):c.580G>A (p.Val194Met)	TBX19 (V194M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2485268	NM_005149.3(TBX19):c.1245C>A (p.Ser415Arg)	TBX19 (S415R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2464600	NM_005149.3(TBX19):c.682G>A (p.Val228Ile)	TBX19 (V228I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2427631	NC_000001.10:g.(?_167400918)_(168282240_?)dup	ADCY10, CD247 +9 more	Duplication	Immunodeficiency 25	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 2377664	NM_005149.3(TBX19):c.1156C>A (p.Pro386Thr)	TBX19 (P386T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350123	NM_005149.3(TBX19):c.1036A>G (p.Ile346Val)	TBX19 (I346V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2263474	NM_005149.3(TBX19):c.651G>C (p.Leu217Phe)	TBX19 (L217F)	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 2228783	NM_005149.3(TBX19):c.766A>C (p.Thr256Pro)	TBX19 (T256P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184871	NM_005149.3(TBX19):c.1287C>T (p.Phe429=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	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 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 2144752	NM_005149.3(TBX19):c.520G>T (p.Val174Phe)	TBX19 (V174F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075176	NM_005149.3(TBX19):c.603+7GT[16]	TBX19	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2072989	NM_005149.3(TBX19):c.1138G>A (p.Ala380Thr)	TBX19 (A380T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068322	NM_005149.3(TBX19):c.949C>A (p.Gln317Lys)	TBX19 (Q317K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2065023	NM_005149.3(TBX19):c.1066C>T (p.Leu356=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059963	NM_005149.3(TBX19):c.579C>T (p.Ala193=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057988	NM_005149.3(TBX19):c.1053-7T>C	TBX19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2046530	NM_005149.3(TBX19):c.1128C>T (p.Ser376=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2022542	NM_005149.3(TBX19):c.1120C>T (p.His374Tyr)	TBX19 (H374Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991284	NM_005149.3(TBX19):c.727+16A>C	TBX19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988259	NM_005149.3(TBX19):c.468+13C>T	TBX19	Single nucleotide variant (intron variant)	not provided	GBenign
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 1909699	NM_005149.3(TBX19):c.1052+11C>T	TBX19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907808	NM_005149.3(TBX19):c.309C>T (p.Tyr103=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897020	NM_005149.3(TBX19):c.917-13T>G	TBX19	Single nucleotide variant (intron variant)	not provided	GBenign
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 1628835	NM_005149.3(TBX19):c.603+19G>T	TBX19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628831	NM_005149.3(TBX19):c.603+17G>T	TBX19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598565	NM_005149.3(TBX19):c.369C>T (p.Tyr123=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
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 1458257	NM_005149.3(TBX19):c.1149C>T (p.Leu383=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440680	NM_005149.3(TBX19):c.982T>G (p.Leu328Val)	TBX19 (L328V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1314595	NM_005149.3(TBX19):c.389A>G (p.Asn130Ser)	TBX19 (N130S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 978567	NM_005149.3(TBX19):c.603+6delinsGTGTTTGT	TBX19	Indel (intron variant)	Pituitary stalk interruption syndrome	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 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 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 759906	NM_005149.3(TBX19):c.1089C>T (p.Ala363=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739745	NM_005149.3(TBX19):c.78G>A (p.Glu26=)	TBX19	Single nucleotide variant (synonymous variant)	not provided	GBenign

<< First< Prev

Page of 2