TEAD2[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2614182	NM_001256660.2(TEAD2):c.1216G>A (p.Val406Ile)	TEAD2 (V274I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175566	NM_001256660.2(TEAD2):c.1174C>A (p.His392Asn)	TEAD2 (H391N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325175	NM_001256660.2(TEAD2):c.1153G>A (p.Glu385Lys)	TEAD2 (E381K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385210	NM_001256660.2(TEAD2):c.946G>A (p.Gly316Ser)	TEAD2 (G312S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175570	NM_001256660.2(TEAD2):c.884G>A (p.Arg295His)	TEAD2 (R295H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325176	NM_001256660.2(TEAD2):c.745T>A (p.Ser249Thr)	TEAD2 (S117T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246830	NM_001256660.2(TEAD2):c.728C>T (p.Pro243Leu)	TEAD2 (P111L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771525	NM_001256660.2(TEAD2):c.677G>C (p.Gly226Ala)	TEAD2 (G226A +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3175569	NM_001256660.2(TEAD2):c.674G>A (p.Arg225Gln)	TEAD2 (R93Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347175	NM_001256660.2(TEAD2):c.653C>T (p.Ser218Leu)	TEAD2 (S218L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221578	NM_001256660.2(TEAD2):c.646A>C (p.Thr216Pro)	TEAD2 (T215P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785637	NM_001256660.2(TEAD2):c.637C>T (p.Pro213Ser)	TEAD2 (P212S +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2307535	NM_001256660.2(TEAD2):c.610G>A (p.Glu204Lys)	TEAD2 (E72K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285467	NM_001256660.2(TEAD2):c.584C>T (p.Pro195Leu)	TEAD2 (P191L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175568	NM_001256660.2(TEAD2):c.542T>C (p.Val181Ala)	TEAD2 (V49A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487584	NM_001256660.2(TEAD2):c.433A>G (p.Ile145Val)	TEAD2 (I141V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770664	NM_001256660.2(TEAD2):c.348G>T (p.Gln116His)	TEAD2 (Q116H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3175567	NM_001256660.2(TEAD2):c.326G>C (p.Arg109Pro)	TEAD2 (R109P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325177	NM_001256660.2(TEAD2):c.225G>C (p.Lys75Asn)	TEAD2 (K75N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277105	NM_001256660.2(TEAD2):c.137G>A (p.Ser46Asn)	TEAD2 (S46N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220702	NM_001256660.2(TEAD2):c.109G>A (p.Gly37Arg)	TEAD2 (G37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486250	NM_001256660.2(TEAD2):c.50C>T (p.Thr17Met)	TEAD2 (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306031	NM_001256660.2(TEAD2):c.26C>T (p.Ala9Val)	TEAD2 (A9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519446	NM_001256660.2(TEAD2):c.13C>T (p.Arg5Trp)	TEAD2 (R5W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 564587	GRCh37/hg19 19q13.33(chr19:49645600-49891280)x3	TRPM4, CD37 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394528	GRCh37/hg19 19q13.33(chr19:49839408-49844174)x3	CD37, TEAD2	Copy number gain	See cases	GLikely benign

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Items: 38