ClinVar for Gene (Select 7049) - ClinVar

Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176673	NM_003243.5(TGFBR3):c.85G>C (p.Glu29Gln)	TGFBR3 (E29Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176672	NM_003243.5(TGFBR3):c.616C>A (p.Leu206Ile)	TGFBR3 (L206I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176671	NM_003243.5(TGFBR3):c.2549C>T (p.Thr850Met)	TGFBR3 (T850M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176670	NM_003243.5(TGFBR3):c.2203G>A (p.Ala735Thr)	TGFBR3 (A734T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176669	NM_003243.5(TGFBR3):c.2123C>T (p.Thr708Met)	TGFBR3 (T707M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176668	NM_003243.5(TGFBR3):c.1831T>C (p.Phe611Leu)	TGFBR3 (F610L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176667	NM_003243.5(TGFBR3):c.1342G>A (p.Val448Met)	TGFBR3 (V447M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3176666	NM_003243.5(TGFBR3):c.1174C>T (p.Arg392Trp)	TGFBR3 (R392W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176665	NM_003243.5(TGFBR3):c.1163A>T (p.Asn388Ile)	TGFBR3 (N387I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060406	NM_003243.5(TGFBR3):c.2247T>C (p.Thr749=)	TGFBR3	Single nucleotide variant (non-coding transcript variant +1 more)	TGFBR3-related condition	GBenign
Select item 3060183	NM_003243.5(TGFBR3):c.44C>T (p.Ser15Phe)	TGFBR3 (S15F)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related condition	GBenign
Select item 3059704	NM_003243.5(TGFBR3):c.1206G>A (p.Pro402=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related condition	GBenign
Select item 3059465	NM_003243.5(TGFBR3):c.2028T>C (p.Phe676=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related condition	GBenign
Select item 3059100	NM_003243.5(TGFBR3):c.519A>G (p.Ser173=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related condition	GBenign
Select item 3055456	NM_003243.5(TGFBR3):c.1341C>T (p.Ser447=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related condition	GBenign
Select item 3050337	NM_003243.5(TGFBR3):c.2368A>T (p.Ile790Phe)	TGFBR3 (I789F +1 more)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related condition	GLikely benign
Select item 3049234	NM_003243.5(TGFBR3):c.1866+6A>T	TGFBR3	Single nucleotide variant (intron variant)	TGFBR3-related condition	GLikely benign
Select item 3044640	NM_003243.5(TGFBR3):c.2330-3T>C	TGFBR3	Single nucleotide variant (intron variant)	TGFBR3-related condition	GLikely benign
Select item 3044142	NM_003243.5(TGFBR3):c.1827C>T (p.Gly609=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related condition	GLikely benign
Select item 3041819	NM_003243.5(TGFBR3):c.2241G>A (p.Thr747=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related condition	GLikely benign
Select item 3041129	NM_003243.5(TGFBR3):c.1051T>A (p.Phe351Ile)	TGFBR3 (F351I)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related condition	GLikely benign
Select item 3040911	NM_003243.5(TGFBR3):c.1770C>T (p.Asn590=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related condition	GBenign
Select item 3035128	NM_003243.5(TGFBR3):c.41G>A (p.Ser14Asn)	TGFBR3 (S14N)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related condition	GLikely benign
Select item 2690232	NM_003243.5(TGFBR3):c.1267C>T (p.Arg423Trp)	TGFBR3 (R422W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685811	GRCh37/hg19 1p22.2-22.1(chr1:91831195-92310841)x3	CDC7, HFM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2672340	NM_003243.5(TGFBR3):c.2202C>T (p.Asp734=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2535874	NM_003243.5(TGFBR3):c.2266C>T (p.His756Tyr)	TGFBR3 (H755Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494949	NM_003243.5(TGFBR3):c.2512G>A (p.Gly838Ser)	TGFBR3 (G838S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488283	NM_003243.5(TGFBR3):c.676C>A (p.Gln226Lys)	TGFBR3 (Q226K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475434	NM_003243.5(TGFBR3):c.1919T>G (p.Phe640Cys)	TGFBR3 (F639C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465696	NM_003243.5(TGFBR3):c.2132C>T (p.Thr711Met)	TGFBR3 (T710M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398692	NM_003243.5(TGFBR3):c.1315A>G (p.Arg439Gly)	TGFBR3 (R439G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397770	NM_003243.5(TGFBR3):c.1231A>G (p.Arg411Gly)	TGFBR3 (R411G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397665	NM_003243.5(TGFBR3):c.1687A>C (p.Thr563Pro)	TGFBR3 (T562P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389765	NM_003243.5(TGFBR3):c.1828G>A (p.Val610Ile)	TGFBR3 (V609I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388306	NM_003243.5(TGFBR3):c.1061G>A (p.Arg354Gln)	TGFBR3 (R354Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381231	NM_003243.5(TGFBR3):c.407A>G (p.Gln136Arg)	TGFBR3 (Q136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379558	NM_003243.5(TGFBR3):c.1583C>A (p.Pro528Gln)	TGFBR3 (P528Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376937	NM_003243.5(TGFBR3):c.1216C>G (p.Pro406Ala)	TGFBR3 (P406A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348879	NM_003243.5(TGFBR3):c.1268G>A (p.Arg423Gln)	TGFBR3 (R423Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335219	NM_003243.5(TGFBR3):c.2547C>A (p.Ser849Arg)	TGFBR3 (S848R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321205	NM_003243.5(TGFBR3):c.331G>T (p.Val111Leu)	TGFBR3 (V111L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303759	NM_003243.5(TGFBR3):c.1160A>G (p.Gln387Arg)	TGFBR3 (Q387R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289021	NM_003243.5(TGFBR3):c.1232G>A (p.Arg411Lys)	TGFBR3 (R410K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283016	NM_003243.5(TGFBR3):c.451A>G (p.Arg151Gly)	TGFBR3 (R151G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281489	NM_003243.5(TGFBR3):c.2461G>C (p.Val821Leu)	TGFBR3 (V821L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281488	NM_003243.5(TGFBR3):c.1084A>T (p.Met362Leu)	TGFBR3 (M362L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280889	NM_003243.5(TGFBR3):c.610C>G (p.Leu204Val)	TGFBR3 (L204V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247560	NM_003243.5(TGFBR3):c.2186C>T (p.Ala729Val)	TGFBR3 (A729V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242735	NM_003243.5(TGFBR3):c.1432A>T (p.Met478Leu)	TGFBR3 (M477L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241900	NM_003243.5(TGFBR3):c.1082A>C (p.Glu361Ala)	TGFBR3 (E360A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233731	NM_003243.5(TGFBR3):c.2014A>G (p.Lys672Glu)	TGFBR3 (K671E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223968	NM_003243.5(TGFBR3):c.1708T>G (p.Phe570Val)	TGFBR3 (F569V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223649	NM_003243.5(TGFBR3):c.1469A>G (p.Lys490Arg)	TGFBR3 (K490R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208272	NM_003243.5(TGFBR3):c.1114C>T (p.Pro372Ser)	TGFBR3 (P371S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809458	GRCh37/hg19 1p22.1(chr1:92157808-92714991)x3	BRDT, BTBD8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1276034	NM_003243.5(TGFBR3):c.216A>G (p.Ala72=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related condition +1 more	GBenign
Select item 1013242	NM_003243.5(TGFBR3):c.1647A>G (p.Gly549=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 777326	NM_003243.5(TGFBR3):c.2293G>C (p.Gly765Arg)	TGFBR3 (G764R +1 more)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related condition +1 more	GBenign
Select item 773411	NM_003243.5(TGFBR3):c.1128C>T (p.Ile376=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 750078	NM_003243.5(TGFBR3):c.405C>T (p.Val135=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 712919	NM_003243.5(TGFBR3):c.464A>G (p.His155Arg)	TGFBR3 (H155R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 685296	GRCh37/hg19 1p22.1(chr1:92035840-92263616)x1	TGFBR3	Copy number loss	not provided	GUncertain significance
Select item 685212	GRCh37/hg19 1p22.1(chr1:92188770-92385442)x1	TGFBR3	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565125	GRCh37/hg19 1p22.1(chr1:92064829-92836061)x3	BTBD8, GLMN +6 more	Copy number gain	not provided	GUncertain significance
Select item 565124	GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)x3	TGFBR3, GLMN +13 more	Copy number gain	not provided	GUncertain significance
Select item 561336	NM_003243.5(TGFBR3):c.466G>A (p.Gly156Arg)	TGFBR3 (G156R)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder	GLikely benign
Select item 561335	NM_003243.5(TGFBR3):c.477T>C (p.His159=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder	GLikely benign
Select item 561334	NM_003243.5(TGFBR3):c.935T>C (p.Met312Thr)	TGFBR3 (M312T)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +1 more	GBenign/Likely benign
Select item 561333	NM_003243.5(TGFBR3):c.2027T>C (p.Phe676Ser)	TGFBR3 (F675S +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder	GUncertain significance
Select item 547818	NM_003243.5(TGFBR3):c.2329C>T (p.Pro777Ser)	TGFBR3 (P776S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 547817	NM_003243.5(TGFBR3):c.1076-16CTT[2]	TGFBR3	Microsatellite (intron variant)	TGFBR3-related condition +2 more	GLikely benign
Select item 547816	NM_003243.5(TGFBR3):c.765T>A (p.Asp255Glu)	TGFBR3 (D255E)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 547815	NM_003243.5(TGFBR3):c.453G>A (p.Arg151=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 547814	NM_003243.5(TGFBR3):c.385-20C>T	TGFBR3	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 547813	NM_003243.5(TGFBR3):c.55A>G (p.Thr19Ala)	TGFBR3 (T19A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 425525	GRCh37/hg19 1p22.1(chr1:92241399-92656121)x3	TGFBR3, BTBD8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 161609	NM_003243.5(TGFBR3):c.2519C>T (p.Thr840Met)	TGFBR3 (T839M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 146293	GRCh38/hg38 1p22.1(chr1:91626400-92362203)x3	BRDT, BTBD8 +18 more	Copy number gain	See cases	GUncertain significance
Select item 57784	GRCh38/hg38 1p22.1(chr1:91811903-92334237)x3	BRDT, BTBD8 +10 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 86