ClinVar for MedGen (Select 892473) - ClinVar

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Items: 47

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17231821.	NM_017617.5(NOTCH1):c.6626_6629del (p.Tyr2209fs) GRCh37: Chr9:139391562-139391565 GRCh38: Chr9:136497110-136497113	NOTCH1	Y2209fs	Abnormality of cardiovascular system morphology	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 9812322.	NM_000459.5(TEK):c.3343G>T (p.Gly1115Ter) GRCh37: Chr9:27229198 GRCh38: Chr9:27229200	TEK	G1071, G1072, G1114, G1115, G967*	Abnormality of cardiovascular system morphology	Pathogenic	no assertion criteria provided
Select item 9812313.	NM_000459.5(TEK):c.3324T>A (p.Tyr1108Ter) GRCh37: Chr9:27229179 GRCh38: Chr9:27229181	TEK	Y1064, Y1065, Y1107, Y1108, Y960*	Abnormality of cardiovascular system morphology	Pathogenic	no assertion criteria provided
Select item 9812304.	NM_000459.5(TEK):c.3295C>T (p.Arg1099Ter) GRCh37: Chr9:27228298 GRCh38: Chr9:27228300	TEK	R1055, R1056, R1098, R1099, R951*	Abnormality of cardiovascular system morphology	Pathogenic	no assertion criteria provided
Select item 9812295.	NM_000459.5(TEK):c.2740C>T (p.Leu914Phe) GRCh37: Chr9:27212758 GRCh38: Chr9:27212760	TEK	L766F, L870F, L871F, L913F, L914F	not provided	Pathogenic (Mar 13, 2020)	criteria provided, single submitter
Select item 9812286.	NM_000459.5(TEK):c.2752C>T (p.Arg918Cys) GRCh37: Chr9:27212770 GRCh38: Chr9:27212772	TEK	R770C, R874C, R875C, R917C, R918C	Multiple cutaneous and mucosal venous malformations	Likely pathogenic (Jun 13, 2023)	criteria provided, single submitter
Select item 9812277.	NM_000459.5(TEK):c.2743C>T (p.Arg915Cys) GRCh37: Chr9:27212761 GRCh38: Chr9:27212763	TEK	R767C, R871C, R872C, R914C, R915C	not provided	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9160508.	NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs) GRCh37: Chr2:225365138-225365141 GRCh38: Chr2:224500421-224500424	CUL3	S523fs, S451fs, S517fs	not provided, Abnormality of cardiovascular system morphology	Likely pathogenic (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5751369.	NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile) GRCh37: Chr9:98212182 GRCh38: Chr9:95449900	PTCH1	V1164I, V1098I, V1013I, V1112I, V1163I	Hereditary cancer-predisposing syndrome, Gorlin syndrome, Cataract, Disproportionate tall stature, Abnormality of cardiovascular system morphology	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 52343710.	NM_001372.4(DNAH9):c.308dup (p.Leu104fs) GRCh37: Chr17:11502116-11502117 GRCh38: Chr17:11598799-11598800	DNAH9	L104fs	Ciliary dyskinesia, primary, 40, not provided, Abnormality of cardiovascular system morphology	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 52343611.	NM_001372.4(DNAH9):c.11666C>G (p.Ser3889Ter) GRCh37: Chr17:11809043 GRCh38: Chr17:11905726	DNAH9	S3889, S201	Ciliary dyskinesia, primary, 40, Abnormality of cardiovascular system morphology	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter
Select item 45288412.	NM_000459.5(TEK):c.2753G>A (p.Arg918His) GRCh37: Chr9:27212771 GRCh38: Chr9:27212773	TEK	R918H, R875H, R770H, R874H, R917H	not provided, Segmental undergrowth associated with venous malformation without capillary component	Conflicting interpretations of pathogenicity (Apr 23, 2021)	criteria provided, conflicting interpretations
Select item 42478613.	NM_000243.2(MEFV):c.[2084A>G];[2230G>T]			Familial Mediterranean fever	Likely pathogenic (Aug 20, 2013)	criteria provided, single submitter
Select item 42036214.	NM_145199.3(LIPT1):c.369del (p.Lys123fs) GRCh37: Chr2:99778789 GRCh38: Chr2:99162326	LIPT1, MITD1	K123fs	not provided, not specified, Abnormal optic nerve morphology, Hypotonia, Abnormality of cardiovascular system morphology, Failure to thrive, Hearing impairment, Lipoyl transferase 1 deficiency	Conflicting interpretations of pathogenicity (Apr 18, 2023)	criteria provided, conflicting interpretations
Select item 37647815.	NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) GRCh37: Chr3:178916854 GRCh38: Chr3:179199066	PIK3CA	E81K	Cowden syndrome, not provided, CLOVES syndrome	Pathogenic (Jun 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37647016.	NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) GRCh37: Chr3:178928079 GRCh38: Chr3:179210291	PIK3CA	E453K	Cowden syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome, CLOVES syndrome, PIK3CA-related disorder, PIK3CA related overgrowth syndrome, not provided	Pathogenic (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37624617.	NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys) GRCh37: Chr3:178952007 GRCh38: Chr3:179234219	PIK3CA	Y1021C	Cowden syndrome	Pathogenic (Nov 4, 2021)	criteria provided, single submitter
Select item 37605018.	NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) GRCh37: Chr3:178921553 GRCh38: Chr3:179203765	PIK3CA	N345K	not provided, Hepatocellular carcinoma, Colorectal cancer, Epidermal nevus, Neoplasm of ovary, CLAPO syndrome, CLOVES syndrome, Cowden syndrome 5, Megalencephaly-capillary malformation-polymicrogyria syndrome, Congenital macrodactylia, Stomach cancerSeborrheic keratosis, Familial cancer of breast, Lung cancer, ...see more	Pathogenic (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37595619.	NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) GRCh37: Chr9:80409488 GRCh38: Chr9:77794572	GNAQ	Q209R	Melanoma, Abnormality of cardiovascular system morphology	Pathogenic (Oct 2, 2014)	no assertion criteria provided
Select item 26803720.	46;XY;t(2;14)(p22;q24.3)dn			Hypertonia, Transposition of the great arteries, Hemiparesis, Coarctation of aorta, Atrial septal defect, Double inlet left ventricle, Hypoplastic aortic arch, Lower limb muscle weakness, Hypotonia, Abnormality of cardiovascular system morphology, Patent ductus arteriosusCerebral ischemia, ...see more	Likely pathogenic (Aug 20, 2016)	criteria provided, single submitter
Select item 26789021.	46;XX;t(7;12)(q11.2;q12).ish			Abnormal facial shape, Intellectual disability, Obesity, Short stature, Abnormality of cardiovascular system morphology, Tetralogy of Fallot	Uncertain significance (Aug 20, 2016)	criteria provided, single submitter
Select item 26782022.	46;XY;t(16;20)(q11.2;q13.2)dn			Duane anomaly, Atrial septal defect, Growth delay, Ventricular septal defect, Global developmental delay, Asthma, Chronic constipation, Proximal muscle weakness in lower limbs, Cryptorchidism, Scoliosis, Abnormality of cardiovascular system morphology ...see more	Uncertain significance (Aug 20, 2016)	criteria provided, single submitter
Select item 22449823.	NM_019108.4(SMG9):c.701+4A>G GRCh37: Chr19:44248920 GRCh38: Chr19:43744768	SMG9		not provided, Abnormal facial shape, Abnormality of cardiovascular system morphology, Brainstem dysplasia, Global developmental delay	Conflicting interpretations of pathogenicity (Dec 15, 2020)	criteria provided, conflicting interpretations
Select item 22449724.	NM_019108.4(SMG9):c.520_521del (p.Pro174fs) GRCh37: Chr19:44251661-44251662 GRCh38: Chr19:43747509-43747510	SMG9	P174fs	Abnormal facial shape, Abnormality of cardiovascular system morphology, Brainstem dysplasia, Global developmental delay	Likely pathogenic (Mar 17, 2013)	criteria provided, single submitter
Select item 22246925.	NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC] GRCh37: Chr3:178936092 Chr3:178936116-178936117 GRCh38: Chr3:179218304 Chr3:179218328-179218329	PIK3CA, PIK3CA	E545A, S553fs	Cowden syndrome 5	Pathogenic (Jan 10, 2013)	no assertion criteria provided
Select item 21167226.	NM_004387.4(NKX2-5):c.554G>T (p.Trp185Leu) GRCh37: Chr5:172659993 GRCh38: Chr5:173232990	NKX2-5	W185L	Abnormality of cardiovascular system morphology	Pathogenic (Feb 8, 2013)	criteria provided, single submitter
Select item 21167127.	NM_004387.4(NKX2-5):c.512T>G (p.Leu171Arg) GRCh37: Chr5:172660035 GRCh38: Chr5:173233032	NKX2-5	L171R	Abnormality of cardiovascular system morphology	Pathogenic (Feb 8, 2013)	criteria provided, single submitter
Select item 21167028.	NM_004387.4(NKX2-5):c.478_480delinsGTACCGTT (p.Gln160fs) GRCh37: Chr5:172660067-172660069 GRCh38: Chr5:173233064-173233066	NKX2-5	Q160fs	not provided, Abnormality of cardiovascular system morphology	Pathogenic (Jan 6, 2017)	criteria provided, multiple submitters, no conflicts
Select item 19084029.	NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) GRCh37: Chr5:172662022 GRCh38: Chr5:173235019	NKX2-5	Q22R	not specified, Cardiovascular phenotype, Abnormality of cardiovascular system morphology, Atrial septal defect 7, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 15601130.	NM_005257.6(GATA6):c.1072del (p.Val358fs) GRCh37: Chr18:19752176 GRCh38: Chr18:22172215	GATA6	V358fs	Abnormality of cardiovascular system morphology, Congenital diaphragmatic hernia	Pathogenic (Jan 24, 2014)	criteria provided, single submitter
Select item 15601031.	NM_005257.6(GATA6):c.712G>T (p.Gly238Ter) GRCh37: Chr18:19751817 GRCh38: Chr18:22171856	GATA6	G238*	Abnormality of cardiovascular system morphology, Congenital diaphragmatic hernia	Pathogenic (Jan 24, 2014)	criteria provided, single submitter
Select item 4546632.	NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) GRCh37: Chr3:178936095 GRCh38: Chr3:179218307	PIK3CA	Q546R	not provided, Neoplasm of ovary	Pathogenic (Feb 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4055533.	NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) GRCh37: Chr12:112926882 GRCh38: Chr12:112489078	PTPN11	R501K, R505K, R500K	Noonan syndrome, Inborn genetic diseases, Microcephaly, Depressed nasal ridge, Epicanthus, Abnormal pinna morphology, Wide nasal bridge, Short stature, Abnormality of cardiovascular system morphology, not provided, RASopathy ...see more	Pathogenic (Jun 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3970334.	NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) GRCh37: Chr3:178947865 GRCh38: Chr3:179230077	PIK3CA	G914R	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Pathogenic (Feb 12, 2022)	reviewed by expert panel FDA Recognized Database
Select item 3194535.	NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) GRCh37: Chr3:178927980 GRCh38: Chr3:179210192	PIK3CA	C420R	CLAPO syndrome, not provided, CLOVES syndrome, Capillary malformation, Neoplasm of ovary, Segmental undergrowth associated with lymphatic malformation	Pathogenic (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3194436.	NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) GRCh37: Chr3:178936082 GRCh38: Chr3:179218294	PIK3CA	E542K	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Pathogenic (Feb 12, 2022)	reviewed by expert panel FDA Recognized Database
Select item 3021337.	NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys) GRCh37: Chr18:19761477 GRCh38: Chr18:22181516	GATA6	R456C	not provided, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Abnormality of cardiovascular system morphology, Congenital diaphragmatic hernia	Pathogenic (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3005338.	NM_000459.5(TEK):c.2690A>G (p.Tyr897Cys) GRCh37: Chr9:27212708 GRCh38: Chr9:27212710	TEK	Y897C, Y749C, Y854C, Y853C, Y896C	not provided	Pathogenic (Oct 2, 2017)	criteria provided, single submitter
Select item 1365939.	NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) GRCh37: Chr3:178936092 GRCh38: Chr3:179218304	PIK3CA	E545A	Neoplasm of ovary	Pathogenic (Dec 23, 2010)	criteria provided, single submitter
Select item 1365540.	NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) GRCh37: Chr3:178936091 GRCh38: Chr3:179218303	PIK3CA	E545K	Eccrine Angiomatous Hamartoma, PIK3CA related overgrowth syndrome, not provided, CLOVES syndrome, Segmental undergrowth associated with lymphatic malformation	Pathogenic/Likely pathogenic (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1365241.	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) GRCh37: Chr3:178952085 GRCh38: Chr3:179234297	PIK3CA	H1047R	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Pathogenic (Feb 11, 2022)	reviewed by expert panel FDA Recognized Database
Select item 1333042.	NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) GRCh37: Chr12:112888166 GRCh38: Chr12:112450362	PTPN11	D61G, D60G	Noonan syndrome and Noonan-related syndrome, Metachondromatosis, Juvenile myelomonocytic leukemia, Noonan syndrome 1, LEOPARD syndrome 1, not provided, RASopathy, Non-immune hydrops fetalis, Juvenile myelomonocytic leukemia, Noonan syndrome, LEOPARD syndrome 1Noonan syndrome 1, Metachondromatosis, Short stature, Abnormality of cardiovascular system morphology, ...see more	Pathogenic (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 929343.	NM_000459.5(TEK):c.2545C>T (p.Arg849Trp) GRCh37: Chr9:27206760 GRCh38: Chr9:27206762	TEK	R849W, R701W, R806W, R805W, R848W	not provided, Segmental undergrowth associated with venous malformation without capillary component	Pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 781944.	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) GRCh37: Chr10:89692904 GRCh38: Chr10:87933147	PTEN	R130, R303	Familial meningioma, Cowden syndrome 1, Glioma susceptibility 2, Malignant tumor of prostate, Macrocephaly-autism syndrome, Cowden syndrome 1, Macrocephaly-autism syndrome, Hereditary cancer-predisposing syndrome, not provided, Glioma susceptibility 2, PTEN hamartoma tumor syndromeCowden syndrome 1, Macrocephaly-autism syndrome, ...see more	Pathogenic (Aug 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 781345.	NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) GRCh37: Chr10:89717672 GRCh38: Chr10:87957915	PTEN	R233, R406, R36*	Cowden syndrome, Hereditary cancer-predisposing syndrome, not provided, PTEN hamartoma tumor syndrome, Cowden syndrome 1	Pathogenic (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 254746.	NM_000243.2(MEFV):c.2084A>G GRCh37: Chr16:3293403 GRCh38: Chr16:3243403	LOC126862264, MEFV	K695R	Inborn genetic diseases, Heart, malformation of, Renal insufficiency, Abnormality of cardiovascular system morphology, Autoinflammatory syndrome, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, not specified, not provided, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominantFamilial Mediterranean fever, Acute febrile neutrophilic dermatosis, ...see more	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 114747.	NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) GRCh37: Chr4:123664110 GRCh38: Chr4:122742955	BBS12	R355*	Polydactyly, postaxial, type A1, Inability to walk, Abnormality of cardiovascular system morphology, Visual impairment, Bardet-Biedl syndrome, Bardet-Biedl syndrome 12	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 47