ClinVar for MedGen (Select 374443) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338395	NM_001002295.2(GATA3):c.425C>A (p.Ser142Ter)	GATA3 (S142*)	Single nucleotide variant (nonsense)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 3256884	NM_001002295.2(GATA3):c.1060C>A (p.Pro354Thr)	GATA3 (P353T +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 3253654	NM_001002295.2(GATA3):c.778+1_778+5del	GATA3	Deletion (splice donor variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 3248540	NM_001002295.2(GATA3):c.902del (p.Leu301fs)	GATA3 (L300fs +1 more)	Deletion (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 3066231	NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser)	GATA3 (C287S +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 3062016	NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro)	GATA3 (L273P +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 2664934	NM_001002295.2(GATA3):c.52G>A (p.Val18Met)	GATA3 (V18M)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 2585072	NM_001002295.2(GATA3):c.924+3_924+6del	GATA3	Deletion (splice donor variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 2582548	NM_001002295.2(GATA3):c.639_648del (p.Ser214fs)	GATA3 (S214fs)	Deletion (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 2507032	NM_001002295.2(GATA3):c.332_333dup (p.Trp112fs)	GATA3 (W112fs)	Duplication (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 2444206	NM_001002295.2(GATA3):c.859G>A (p.Ala287Thr)	GATA3 (A286T +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 2432050	NM_001002295.2(GATA3):c.827G>T (p.Arg276Leu)	GATA3 (R275L +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 2432049	NM_001002295.2(GATA3):c.473C>T (p.Pro158Leu)	GATA3 (P158L)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 1805229	NM_001002295.2(GATA3):c.924+1G>A	GATA3	Single nucleotide variant (splice donor variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1712274	NM_001002295.2(GATA3):c.1256C>T (p.Thr419Met)	GATA3 (T418M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1699381	NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu)	GATA3 (R298L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1685841	NM_001002295.2(GATA3):c.925-3_925-2del	GATA3	Deletion (splice acceptor variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1685840	NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)	GATA3 (G128fs)	Deletion (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1455943	NM_001002295.2(GATA3):c.1050+2T>C	GATA3	Single nucleotide variant (splice donor variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GPathogenic
Select item 1452435	NM_001002295.2(GATA3):c.404del (p.Pro135fs)	GATA3 (P135fs)	Deletion (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GPathogenic
Select item 1331186	NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp)	GATA3, LOC130003278 (A70D)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GUncertain significance
Select item 1322981	NM_001002295.2(GATA3):c.779-1G>C	GATA3	Single nucleotide variant (splice acceptor variant +1 more)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1310417	NM_001002295.2(GATA3):c.706C>T (p.Pro236Ser)	GATA3 (P236S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1234255	NM_001002295.2(GATA3):c.925-27C>T	GATA3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1215689	NM_001002295.2(GATA3):c.1050+19G>A	GATA3	Single nucleotide variant (intron variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GBenign/Likely benign
Select item 1210263	NM_001002295.2(GATA3):c.273T>A (p.His91Gln)	GATA3 (H91Q)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 1194706	NM_001002295.2(GATA3):c.373_375dup (p.Gly125dup)	GATA3	Duplication (inframe_insertion)	not provided +1 more	GLikely benign
Select item 1190298	NM_001002295.2(GATA3):c.330C>T (p.Ser110=)	GATA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1186318	NM_001002295.2(GATA3):c.591G>A (p.Glu197=)	GATA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1185679	NM_001002295.2(GATA3):c.352_353del (p.Ser118fs)	GATA3 (S118fs)	Microsatellite (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1185058	NM_001002295.2(GATA3):c.675C>A (p.Tyr225Ter)	GATA3 (Y225*)	Single nucleotide variant (nonsense)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1181898	NM_001002295.2(GATA3):c.724G>A (p.Gly242Ser)	GATA3 (G242S)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GLikely benign
Select item 1174524	NM_001002295.2(GATA3):c.778+1G>A	GATA3	Single nucleotide variant (splice donor variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1174140	NM_001002295.2(GATA3):c.951del (p.Cys318fs)	GATA3 (C317fs +1 more)	Deletion (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1174139	NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp)	GATA3 (C287W)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1065344	NM_001002295.2(GATA3):c.389del (p.Leu130fs)	GATA3 (L130fs)	Deletion (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1064809	NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala)	GATA3 (P435A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 1034340	NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu)	GATA3 (P24L)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GUncertain significance
Select item 996142	NM_001002295.2(GATA3):c.257G>A (p.Arg86His)	GATA3 (R86H)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 977148	NM_001002295.2(GATA3):c.708dup (p.Ser237fs)	GATA3 (S237fs)	Duplication (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GPathogenic
Select item 977078	NM_001002295.2(GATA3):c.605G>A (p.Arg202His)	GATA3 (R202H)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GUncertain significance
Select item 975096	NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)	GATA3 (C263S +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 974707	NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met)	GATA3 (T420M +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 931057	NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)	GATA3 (T245fs)	Indel (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 880324	NM_001002295.2(GATA3):c.*22G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GBenign
Select item 880323	NM_001002295.2(GATA3):c.1173G>A (p.Ser391=)	GATA3	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 880280	NM_001002295.2(GATA3):c.-80C>T	GATA3	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 879166	NM_001002295.2(GATA3):c.*987T>G	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GBenign
Select item 879165	NM_001002295.2(GATA3):c.*863T>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 879164	NM_001002295.2(GATA3):c.*747G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 879112	NM_001002295.2(GATA3):c.990G>A (p.Arg330=)	GATA3	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 879111	NM_001002295.2(GATA3):c.708C>A (p.Pro236=)	GATA3	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 879110	NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr)	GATA3 (P236T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879062	NM_001002295.2(GATA3):c.-495G>C	GATA3	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 879061	NM_001002295.2(GATA3):c.-561G>T	GATA3	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 878571	NM_001002295.2(GATA3):c.*656G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 878570	NM_001002295.2(GATA3):c.*598G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 878569	NM_001002295.2(GATA3):c.*592G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 878568	NM_001002295.2(GATA3):c.*588C>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 878526	NM_001002295.2(GATA3):c.492C>T (p.Asp164=)	GATA3	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 878525	NM_001002295.2(GATA3):c.489G>A (p.Pro163=)	GATA3	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 878524	NM_001002295.2(GATA3):c.327C>T (p.Ala109=)	GATA3	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 877546	NM_001002295.2(GATA3):c.*383T>G	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 877545	NM_001002295.2(GATA3):c.*320T>C	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 877499	NM_001002295.2(GATA3):c.241+8C>T	GATA3, LOC130003278	Single nucleotide variant (intron variant)	Hypoparathyroidism, deafness, renal disease syndrome	GBenign
Select item 877498	NM_001002295.2(GATA3):c.-40G>A	GATA3	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 870395	NM_001002295.2(GATA3):c.431dup (p.His145fs)	GATA3 (H145fs)	Duplication (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GPathogenic
Select item 869468	NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)	GATA3 (C320S +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 802560	NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys)	GATA3 (R353K +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 802559	NM_001002295.2(GATA3):c.708del (p.Ser237fs)	GATA3 (S237fs)	Deletion (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GPathogenic
Select item 754927	NM_001002295.2(GATA3):c.294C>T (p.Asp98=)	GATA3	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GLikely benign
Select item 739979	NM_001002295.2(GATA3):c.375C>T (p.Gly125=)	GATA3	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GLikely benign
Select item 708111	NM_001002295.2(GATA3):c.948G>A (p.Thr316=)	GATA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 694354	NM_001002295.2(GATA3):c.324del (p.Ala109fs)	GATA3 (A109fs)	Deletion (frameshift variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 585128	NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)	GATA3 (R353T +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 513653	NM_001002295.2(GATA3):c.480C>T (p.Asp160=)	GATA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 424946	NM_001002295.2(GATA3):c.359C>T (p.Thr120Met)	GATA3 (T120M)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 301151	NM_001002295.2(GATA3):c.*1072C>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301150	NM_001002295.2(GATA3):c.*1066C>T	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GBenign
Select item 301149	NM_001002295.2(GATA3):c.*1029C>T	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301148	NM_001002295.2(GATA3):c.*952G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301147	NM_001002295.2(GATA3):c.*895T>G	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301146	NM_001002295.2(GATA3):c.*857A>T	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301145	NM_001002295.2(GATA3):c.*798G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GBenign
Select item 301144	NM_001002295.2(GATA3):c.*746C>T	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301143	NM_001002295.2(GATA3):c.*714G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301142	NM_001002295.2(GATA3):c.*664C>T	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GBenign/Likely benign
Select item 301141	NM_001002295.2(GATA3):c.*647A>G	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301140	NM_001002295.2(GATA3):c.*612G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 301139	NM_001002295.2(GATA3):c.*575A>C	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301138	NM_001002295.2(GATA3):c.*517A>G	GATA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 301137	NM_001002295.2(GATA3):c.*491A>G	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GBenign
Select item 301136	NM_001002295.2(GATA3):c.*356G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301135	NM_001002295.2(GATA3):c.*267G>A	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301134	NM_001002295.2(GATA3):c.264_265dup	GATA3	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301133	NM_001002295.2(GATA3):c.*265dup	GATA3	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301132	NM_001002295.2(GATA3):c.*105A>G	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GUncertain significance
Select item 301131	NM_001002295.2(GATA3):c.*93C>T	GATA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 301130	NM_001002295.2(GATA3):c.*26C>G	GATA3	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism, deafness, renal disease syndrome	GBenign

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