ClinVar for Gene (Select 2050) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382457	NM_004444.5(EPHB4):c.1161_1162dup (p.Glu388fs)	EPHB4 (E388fs)	Duplication (frameshift variant)	Lymphatic malformation 7 +1 more	GLikely pathogenic
Select item 3382342	NM_004444.5(EPHB4):c.1918_1919insCTT (p.Lys640delinsThrTer)	EPHB4	Insertion (nonsense)	Lymphatic malformation 7 +1 more	GLikely pathogenic
Select item 3382054	NM_004444.5(EPHB4):c.919G>A (p.Gly307Arg)	EPHB4 (G307R)	Single nucleotide variant (missense variant)	Lymphatic malformation 7 +1 more	GUncertain significance
Select item 3379784	NM_004444.5(EPHB4):c.7C>A (p.Leu3Ile)	EPHB4, SLC12A9 (L3I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379783	NM_004444.5(EPHB4):c.770C>T (p.Pro257Leu)	EPHB4 (P257L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379782	NM_004444.5(EPHB4):c.1436C>T (p.Pro479Leu)	EPHB4 (P479L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378318	NM_004444.5(EPHB4):c.176A>G (p.Glu59Gly)	EPHB4 (E59G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377140	NM_004444.5(EPHB4):c.2273A>G (p.Asp758Gly)	EPHB4 (D758G)	Single nucleotide variant (missense variant)	Lymphatic malformation 7	GLikely pathogenic
Select item 3372854	NM_004444.5(EPHB4):c.569T>G (p.Leu190Arg)	EPHB4 (L190R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372600	NM_004444.5(EPHB4):c.1915A>G (p.Lys639Glu)	EPHB4 (K639E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370094	NM_004444.5(EPHB4):c.758_759delinsCT (p.Cys253Ser)	EPHB4 (C253S)	Indel (missense variant)	not provided	GUncertain significance
Select item 3365627	NM_004444.5(EPHB4):c.1850T>C (p.Ile617Thr)	EPHB4 (I617T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363668	NM_004444.5(EPHB4):c.2314C>T (p.Pro772Ser)	EPHB4 (P772S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360186	NM_004444.5(EPHB4):c.989T>C (p.Val330Ala)	EPHB4 (V330A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347088	NM_004444.5(EPHB4):c.1973G>A (p.Arg658Gln)	EPHB4 (R658Q)	Single nucleotide variant (missense variant)	EPHB4-related disorder	GUncertain significance
Select item 3346468	NM_004444.5(EPHB4):c.2168del (p.Gly723fs)	EPHB4 (G723fs)	Deletion (frameshift variant)	EPHB4-related disorder	GLikely pathogenic
Select item 3346419	NM_004444.5(EPHB4):c.1072G>C (p.Ala358Pro)	EPHB4 (A358P)	Single nucleotide variant (missense variant)	EPHB4-related disorder	GUncertain significance
Select item 3343137	NM_004444.5(EPHB4):c.1756+5G>A	EPHB4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3340438	NM_004444.5(EPHB4):c.1692G>C (p.Arg564Ser)	EPHB4 (R564S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337082	NM_004444.5(EPHB4):c.1588+5G>T	EPHB4	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3336877	NM_004444.5(EPHB4):c.1901T>C (p.Leu634Pro)	EPHB4 (L634P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3275996	NM_004444.5(EPHB4):c.548C>T (p.Ala183Val)	EPHB4 (A183V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275995	NM_004444.5(EPHB4):c.2732C>T (p.Ser911Phe)	EPHB4 (S911F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275994	NM_004444.5(EPHB4):c.2587G>T (p.Ala863Ser)	EPHB4, LOC126860124 (A863S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275993	NM_004444.5(EPHB4):c.280A>G (p.Met94Val)	EPHB4 (M94V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275992	NM_004444.5(EPHB4):c.2474G>A (p.Ser825Asn)	EPHB4, LOC126860124 (S825N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3275991	NM_004444.5(EPHB4):c.2528C>G (p.Pro843Arg)	EPHB4, LOC126860124 (P843R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275990	NM_004444.5(EPHB4):c.1121G>A (p.Gly374Glu)	EPHB4 (G374E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275989	NM_004444.5(EPHB4):c.798C>T (p.Thr266=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3275988	NM_004444.5(EPHB4):c.532T>G (p.Phe178Val)	EPHB4 (F178V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275987	NM_004444.5(EPHB4):c.430G>A (p.Glu144Lys)	EPHB4 (E144K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275986	NM_004444.5(EPHB4):c.1344C>G (p.Ser448Arg)	EPHB4 (S448R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275985	NM_004444.5(EPHB4):c.2424T>C (p.Ile808=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3275984	NM_004444.5(EPHB4):c.2485G>A (p.Val829Met)	EPHB4, LOC126860124 (V829M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275983	NM_004444.5(EPHB4):c.1943C>A (p.Thr648Asn)	EPHB4 (T648N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275982	NM_004444.5(EPHB4):c.1895G>A (p.Gly632Glu)	EPHB4 (G632E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275981	NM_004444.5(EPHB4):c.1340C>T (p.Pro447Leu)	EPHB4 (P447L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275980	NM_004444.5(EPHB4):c.2331C>G (p.Ser777=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3275979	NM_004444.5(EPHB4):c.1611G>C (p.Gln537His)	EPHB4 (Q537H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275978	NM_004444.5(EPHB4):c.2681C>T (p.Ala894Val)	EPHB4 (A894V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275977	NM_004444.5(EPHB4):c.616C>G (p.Arg206Gly)	EPHB4 (R206G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275976	NM_004444.5(EPHB4):c.913C>T (p.Arg305Cys)	EPHB4 (R305C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275975	NM_004444.5(EPHB4):c.1371C>T (p.Pro457=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3275974	NM_004444.5(EPHB4):c.133C>A (p.Leu45Met)	EPHB4 (L45M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275973	NM_004444.5(EPHB4):c.203G>C (p.Gly68Ala)	EPHB4 (G68A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275972	NM_004444.5(EPHB4):c.2698G>A (p.Asp900Asn)	EPHB4 (D900N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275971	NM_004444.5(EPHB4):c.1954G>A (p.Gly652Ser)	EPHB4 (G652S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275970	NM_004444.5(EPHB4):c.371C>T (p.Thr124Met)	EPHB4 (T124M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275969	NM_004444.5(EPHB4):c.2591G>A (p.Arg864Gln)	EPHB4, LOC126860124 (R864Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275968	NM_004444.5(EPHB4):c.2126A>C (p.Asp709Ala)	EPHB4 (D709A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3275967	NM_004444.5(EPHB4):c.2157C>T (p.Gly719=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3255221	NM_004444.5(EPHB4):c.2389_2392del (p.Phe797fs)	EPHB4, LOC126860124 (F797fs)	Deletion (frameshift variant)	Capillary malformation-arteriovenous malformation 2	GPathogenic
Select item 3253221	NM_004444.5(EPHB4):c.2009A>G (p.Gln670Arg)	EPHB4 (Q670R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3245883	NC_000007.13:g.(?_100411254)_(100411663_?)del	EPHB4	Deletion	not provided	GUncertain significance
Select item 3245882	NC_000007.13:g.(?_100401083)_(100420309_?)del	EPHB4	Deletion	not provided	GPathogenic
Select item 3238641	NM_004444.5(EPHB4):c.758G>A (p.Cys253Tyr)	EPHB4 (C253Y)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance
Select item 3237427	NM_004444.5(EPHB4):c.2785G>A (p.Ala929Thr)	EPHB4 (A929T)	Single nucleotide variant (missense variant)	Lymphatic malformation 7	GUncertain significance
Select item 3237425	NM_004444.5(EPHB4):c.814G>T (p.Ala272Ser)	EPHB4 (A272S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance
Select item 3237422	NM_004444.5(EPHB4):c.2270_2271dup (p.Asp758fs)	EPHB4 (D758fs)	Duplication (frameshift variant)	Capillary malformation-arteriovenous malformation 2	GLikely pathogenic
Select item 3237182	NM_004444.5(EPHB4):c.525C>G (p.Tyr175Ter)	EPHB4 (Y175*)	Single nucleotide variant (nonsense)	Capillary malformation-arteriovenous malformation 2	GLikely pathogenic
Select item 3233740	NM_004444.5(EPHB4):c.2654A>G (p.Lys885Arg)	EPHB4, LOC126860124 (K885R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224298	NM_004444.5(EPHB4):c.982C>T (p.Arg328Trp)	EPHB4 (R328W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224297	NM_004444.5(EPHB4):c.981G>A (p.Pro327=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224296	NM_004444.5(EPHB4):c.975G>C (p.Ser325=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224295	NM_004444.5(EPHB4):c.908A>G (p.Gln303Arg)	EPHB4 (Q303R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224294	NM_004444.5(EPHB4):c.868G>A (p.Ala290Thr)	EPHB4 (A290T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224293	NM_004444.5(EPHB4):c.796A>G (p.Thr266Ala)	EPHB4 (T266A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224292	NM_004444.5(EPHB4):c.676G>C (p.Asp226His)	EPHB4 (D226H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224291	NM_004444.5(EPHB4):c.673G>T (p.Val225Leu)	EPHB4 (V225L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224290	NM_004444.5(EPHB4):c.654C>T (p.Pro218=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224289	NM_004444.5(EPHB4):c.312G>A (p.Gly104=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224288	NM_004444.5(EPHB4):c.2912A>G (p.Gln971Arg)	EPHB4 (Q971R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224287	NM_004444.5(EPHB4):c.2908T>C (p.Ser970Pro)	EPHB4 (S970P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224286	NM_004444.5(EPHB4):c.2877G>T (p.Lys959Asn)	EPHB4 (K959N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224285	NM_004444.5(EPHB4):c.2868A>G (p.Gly956=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224284	NM_004444.5(EPHB4):c.2851G>A (p.Gly951Arg)	EPHB4 (G951R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224283	NM_004444.5(EPHB4):c.2787A>G (p.Ala929=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224282	NM_004444.5(EPHB4):c.2755A>G (p.Ile919Val)	EPHB4 (I919V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224281	NM_004444.5(EPHB4):c.2689C>T (p.Pro897Ser)	EPHB4 (P897S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224280	NM_004444.5(EPHB4):c.2632A>G (p.Ile878Val)	EPHB4, LOC126860124 (I878V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3224279	NM_004444.5(EPHB4):c.2617G>A (p.Ala873Thr)	EPHB4, LOC126860124 (A873T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3224278	NM_004444.5(EPHB4):c.2383C>T (p.Arg795Trp)	EPHB4, LOC126860124 (R795W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224277	NM_004444.5(EPHB4):c.2296G>A (p.Glu766Lys)	EPHB4 (E766K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224276	NM_004444.5(EPHB4):c.221G>A (p.Arg74His)	EPHB4 (R74H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224275	NM_004444.5(EPHB4):c.1891C>T (p.Arg631Trp)	EPHB4 (R631W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224274	NM_004444.5(EPHB4):c.1746C>T (p.Leu582=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224273	NM_004444.5(EPHB4):c.1643G>A (p.Gly548Asp)	EPHB4 (G548D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224272	NM_004444.5(EPHB4):c.162C>T (p.Ser54=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224271	NM_004444.5(EPHB4):c.15G>A (p.Val5=)	EPHB4, SLC12A9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3224270	NM_004444.5(EPHB4):c.1577C>T (p.Thr526Ile)	EPHB4 (T526I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224269	NM_004444.5(EPHB4):c.1447C>T (p.Arg483Trp)	EPHB4 (R483W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224267	NM_004444.5(EPHB4):c.1351A>C (p.Ser451Arg)	EPHB4 (S451R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224266	NM_004444.5(EPHB4):c.1315G>A (p.Asp439Asn)	EPHB4 (D439N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224265	NM_004444.5(EPHB4):c.1185G>A (p.Gly395=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224264	NM_004444.5(EPHB4):c.1116C>G (p.Pro372=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224263	NM_004444.5(EPHB4):c.1091G>A (p.Cys364Tyr)	EPHB4 (C364Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224262	NM_004444.5(EPHB4):c.1005C>T (p.Asn335=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3089683	NM_004444.5(EPHB4):c.851C>A (p.Ser284Tyr)	EPHB4 (S284Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3089682	NM_004444.5(EPHB4):c.658G>T (p.Ala220Ser)	EPHB4 (A220S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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