ClinVar for Gene (Select 2626) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377909	NM_001308093.3(GATA4):c.734A>G (p.Tyr245Cys)	GATA4 (Y244C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373269	NM_001308093.3(GATA4):c.1021C>T (p.Leu341Phe)	GATA4 (L134F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372025	NM_001308093.3(GATA4):c.586G>T (p.Ala196Ser)	GATA4 (A196S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370879	NM_001308093.3(GATA4):c.1013G>C (p.Ser338Thr)	GATA4 (S131T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370608	NM_001308093.3(GATA4):c.670A>T (p.Met224Leu)	GATA4 (M17L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369773	NM_001308093.3(GATA4):c.571_579dup (p.Pro193_Gly194insSerLeuPro)	GATA4	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3369428	NM_001308093.3(GATA4):c.347C>G (p.Ser116Cys)	GATA4 (S116C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364142	NM_001308093.3(GATA4):c.802G>T (p.Val268Leu)	GATA4 (V267L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363535	NM_001308093.3(GATA4):c.662G>A (p.Cys221Tyr)	GATA4 (C14Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361005	NM_001308093.3(GATA4):c.593C>G (p.Pro198Arg)	GATA4 (P198R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360663	NM_001308093.3(GATA4):c.653G>A (p.Cys218Tyr)	GATA4 (C11Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358060	NM_001308093.3(GATA4):c.1150-117C>T	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3355588	NM_001308093.3(GATA4):c.1001-23G>A	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3354683	NM_001308093.3(GATA4):c.*1165G>A	GATA4	Single nucleotide variant (3 prime UTR variant)	GATA4-related disorder	GLikely benign
Select item 3354613	NM_001308093.3(GATA4):c.*1248G>A	GATA4	Single nucleotide variant (3 prime UTR variant)	GATA4-related disorder	GLikely benign
Select item 3353721	NC_000008.11:g.11703279A>G	GATA4, LOC110121280	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3348112	NM_001308093.3(GATA4):c.67C>A (p.Pro23Thr)	GATA4 (P23T)	Single nucleotide variant (missense variant +1 more)	GATA4-related disorder	GUncertain significance
Select item 3345046	NM_001308093.3(GATA4):c.468C>G (p.Gly156=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	GATA4-related disorder	GLikely benign
Select item 3343265	NM_001308093.3(GATA4):c.658A>T (p.Asn220Tyr)	GATA4 (N13Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3280853	NM_001308093.3(GATA4):c.402T>C (p.Ser134=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3280851	NM_001308093.3(GATA4):c.271C>A (p.Gln91Lys)	GATA4 (Q91K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3280850	NM_001308093.3(GATA4):c.1187C>G (p.Ser396Cys)	GATA4 (S147C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3280849	NM_001308093.3(GATA4):c.156C>T (p.Ser52=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3280848	NM_001308093.3(GATA4):c.253G>C (p.Gly85Arg)	GATA4 (G85R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3280847	NM_001308093.3(GATA4):c.30C>T (p.Asn10=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3280846	NM_001308093.3(GATA4):c.201G>A (p.Ser67=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3280844	NM_001308093.3(GATA4):c.361G>A (p.Ala121Thr)	GATA4 (A121T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3280843	NM_001308093.3(GATA4):c.309G>A (p.Pro103=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3280842	NM_001308093.3(GATA4):c.327C>G (p.Ser109=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3256869	NM_001308093.3(GATA4):c.620A>G (p.Asp207Gly)	GATA4 (D206G +1 more)	Single nucleotide variant (missense variant +1 more)	Tetralogy of Fallot	GUncertain significance
Select item 3253309	NM_001308093.3(GATA4):c.149G>A (p.Gly50Asp)	GATA4 (G50D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253021	NM_001308093.3(GATA4):c.763C>G (p.Leu255Val)	GATA4 (L254V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245523	NC_000008.10:g.(?_11351220)_(11710963_?)dup	BLK, CTSB +3 more	Duplication	Atrioventricular septal defect 4	GUncertain significance
Select item 3245522	NC_000008.10:g.(?_11565822)_(11615984_?)del	GATA4	Deletion	Atrioventricular septal defect 4	GPathogenic
Select item 3242300	GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	BLK, C8orf74 +48 more	Copy number gain	not provided	GPathogenic
Select item 3221999	NM_001308093.3(GATA4):c.764T>A (p.Leu255His)	GATA4 (L254H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221998	NM_001308093.3(GATA4):c.70G>T (p.Gly24Cys)	GATA4 (G24C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3221997	NM_001308093.3(GATA4):c.611A>T (p.Asn204Ile)	GATA4 (N204I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3221996	NM_001308093.3(GATA4):c.527C>T (p.Ala176Val)	GATA4 (A176V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3221995	NM_001308093.3(GATA4):c.504C>T (p.Asp168=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3221994	NM_001308093.3(GATA4):c.45C>T (p.Pro15=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3221993	NM_001308093.3(GATA4):c.456C>A (p.Ala152=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3221992	NM_001308093.3(GATA4):c.435C>G (p.Gly145=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3221991	NM_001308093.3(GATA4):c.432G>C (p.Ala144=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3221990	NM_001308093.3(GATA4):c.301C>G (p.Pro101Ala)	GATA4 (P101A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3221989	NM_001308093.3(GATA4):c.258C>T (p.Ser86=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3221988	NM_001308093.3(GATA4):c.256A>G (p.Ser86Gly)	GATA4 (S86G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3221987	NM_001308093.3(GATA4):c.212C>G (p.Ser71Cys)	GATA4 (S71C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3221986	NM_001308093.3(GATA4):c.188C>G (p.Ser63Cys)	GATA4 (S63C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3221985	NM_001308093.3(GATA4):c.168C>A (p.Gly56=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3221984	NM_001308093.3(GATA4):c.1323C>A (p.Ile441=)	GATA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3221983	NM_001308093.3(GATA4):c.1110C>T (p.Gly370=)	GATA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3098757	NM_001308093.3(GATA4):c.85G>T (p.Gly29Cys)	GATA4 (G29C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3098756	NM_001308093.3(GATA4):c.64G>A (p.Gly22Ser)	GATA4 (G22S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3098755	NM_001308093.3(GATA4):c.586G>A (p.Ala196Thr)	GATA4 (A196T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3098754	NM_001308093.3(GATA4):c.452G>T (p.Arg151Leu)	GATA4 (R151L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3098753	NM_001308093.3(GATA4):c.1148A>C (p.Gln383Pro)	GATA4 (Q382P +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3066303	NM_001308093.3(GATA4):c.896A>G (p.Tyr299Cys)	GATA4 (Y298C +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2	GLikely pathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063015	GRCh37/hg19 8p23.1(chr8:10783690-11882401)x3	BLK, CTSB +10 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3057770	NM_001308093.3(GATA4):c.616+9G>A	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3056266	NM_001308093.3(GATA4):c.617-121G>T	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3054605	NC_000008.11:g.11703906G>A	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3051625	NC_000008.11:g.11703892G>T	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3050433	NM_001308093.3(GATA4):c.1000+105G>C	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3047440	NM_001308093.3(GATA4):c.1001-36C>T	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3046568	NM_001308093.3(GATA4):c.1000+103G>C	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3042065	NM_001308093.3(GATA4):c.1149+177C>G	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3028970	NM_001308093.3(GATA4):c.1206G>C (p.Ser402=)	GATA4	Single nucleotide variant (synonymous variant)	GATA4-related disorder	GLikely benign
Select item 3019607	NM_001308093.3(GATA4):c.797G>A (p.Arg266His)	GATA4 (R59H +2 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 3014238	NM_001308093.3(GATA4):c.1198G>C (p.Val400Leu)	GATA4 (V151L +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 3013481	NM_001308093.3(GATA4):c.858T>C (p.Asn286=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2995424	NM_001308093.3(GATA4):c.532G>A (p.Ala178Thr)	GATA4 (A178T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2991305	NM_001308093.3(GATA4):c.832A>G (p.Thr278Ala)	GATA4 (T278A +2 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2967408	NM_001308093.3(GATA4):c.191G>A (p.Gly64Glu)	GATA4 (G64E)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GLikely pathogenic
Select item 2920054	NM_001308093.3(GATA4):c.501C>G (p.Ala167=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2919681	NM_001308093.3(GATA4):c.1150-14T>C	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2919190	NM_001308093.3(GATA4):c.681G>A (p.Pro227=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2918053	NM_001308093.3(GATA4):c.200C>T (p.Ser67Leu)	GATA4 (S67L)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2917817	NM_001308093.3(GATA4):c.1065C>T (p.Thr355=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2916444	NM_001308093.3(GATA4):c.1150-8C>T	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2914183	NM_001308093.3(GATA4):c.448G>C (p.Gly150Arg)	GATA4 (G150R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2913906	NM_001308093.3(GATA4):c.205G>T (p.Gly69Cys)	GATA4 (G69C)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2912283	NM_001308093.3(GATA4):c.1000+17_1000+18del	GATA4	Microsatellite (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2912058	NM_001308093.3(GATA4):c.852C>G (p.Arg284=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2911272	NM_001308093.3(GATA4):c.175G>A (p.Ala59Thr)	GATA4 (A59T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2909470	NM_001308093.3(GATA4):c.67C>T (p.Pro23Ser)	GATA4 (P23S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2909014	NM_001308093.3(GATA4):c.603A>G (p.Arg201=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2907334	NM_001308093.3(GATA4):c.400A>G (p.Ser134Gly)	GATA4 (S134G)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2905193	NM_001308093.3(GATA4):c.438C>G (p.Arg146=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2904223	NM_001308093.3(GATA4):c.317C>G (p.Pro106Arg)	GATA4 (P106R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2903180	NM_001308093.3(GATA4):c.342C>T (p.Thr114=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2899467	NM_001308093.3(GATA4):c.404G>T (p.Gly135Val)	GATA4 (G135V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2899161	NM_001308093.3(GATA4):c.451C>A (p.Arg151Ser)	GATA4 (R151S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2896922	NM_001308093.3(GATA4):c.781C>T (p.Arg261Trp)	GATA4 (R261W +2 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 2891702	NM_001308093.3(GATA4):c.179G>C (p.Gly60Ala)	GATA4 (G60A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2885442	NM_001308093.3(GATA4):c.786+10T>G	GATA4	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 2884178	NM_001308093.3(GATA4):c.416C>T (p.Ala139Val)	GATA4 (A139V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance

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