3395[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 1282284	NM_004444.5(EPHB4):c.*134GA[2]	EPHB4	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 3029263	NM_004444.5(EPHB4):c.*5C>T	EPHB4	Single nucleotide variant (3 prime UTR variant)	EPHB4-related disorder	GLikely benign
Select item 2217994	NM_004444.5(EPHB4):c.2957A>G (p.Gln986Arg)	EPHB4 (Q986R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1578559	NM_004444.5(EPHB4):c.2955G>A (p.Pro985=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1798092	NM_004444.5(EPHB4):c.2954C>T (p.Pro985Leu)	EPHB4 (P985L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1798004	NM_004444.5(EPHB4):c.2949G>A (p.Pro983=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 811022	NM_004444.5(EPHB4):c.2949G>T (p.Pro983=)	EPHB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1797991	NM_004444.5(EPHB4):c.2948C>T (p.Pro983Leu)	EPHB4 (P983L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1797989	NM_004444.5(EPHB4):c.2948C>G (p.Pro983Arg)	EPHB4 (P983R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1797826	NM_004444.5(EPHB4):c.2931G>A (p.Pro977=)	EPHB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1450144	NM_004444.5(EPHB4):c.2930C>T (p.Pro977Leu)	EPHB4 (P977L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1797736	NM_004444.5(EPHB4):c.2923G>A (p.Gly975Arg)	EPHB4 (G975R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797727	NM_004444.5(EPHB4):c.2922G>A (p.Pro974=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2565153	NM_004444.5(EPHB4):c.2916C>T (p.Ala972=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3068705	NM_004444.5(EPHB4):c.2915C>A (p.Ala972Asp)	EPHB4 (A972D)	Single nucleotide variant (missense variant)	EPHB4-associated vascular malformation spectrum	GUncertain significance
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 1797578	NM_004444.5(EPHB4):c.2910C>T (p.Ser970=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2539546	NM_004444.5(EPHB4):c.2893G>A (p.Val965Ile)	EPHB4 (V965I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1797299	NM_004444.5(EPHB4):c.2890A>G (p.Ser964Gly)	EPHB4 (S964G)	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 2701266	NM_004444.5(EPHB4):c.2864C>T (p.Ala955Val)	EPHB4 (A955V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 692019	NM_004444.5(EPHB4):c.2860_2861del (p.Leu954fs)	EPHB4 (L954fs)	Microsatellite (frameshift variant)	Lymphatic malformation 7	GLikely pathogenic
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 1796829	NM_004444.5(EPHB4):c.2850C>T (p.Ile950=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1796773	NM_004444.5(EPHB4):c.2846G>A (p.Arg949Gln)	EPHB4 (R949Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2762553	NM_004444.5(EPHB4):c.2845C>T (p.Arg949Ter)	EPHB4 (R949*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1796726	NM_004444.5(EPHB4):c.2841G>A (p.Leu947=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2450397	NM_004444.5(EPHB4):c.2839C>A (p.Leu947Met)	EPHB4 (L947M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796671	NM_004444.5(EPHB4):c.2838C>A (p.Asp946Glu)	EPHB4 (D946E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1584297	NM_004444.5(EPHB4):c.2837A>G (p.Asp946Gly)	EPHB4 (D946G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1251571	NM_004444.5(EPHB4):c.2835-58A>C	EPHB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274161	NM_004444.5(EPHB4):c.2835-196C>G	EPHB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251672	NM_004444.5(EPHB4):c.2835-221T>C	EPHB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237086	NM_004444.5(EPHB4):c.2835-237C>T	EPHB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995667	NM_004444.5(EPHB4):c.2834+17G>A	EPHB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1796541	NM_004444.5(EPHB4):c.2829T>G (p.Ser943=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2430300	NM_004444.5(EPHB4):c.2809G>C (p.Glu937Gln)	EPHB4 (E937Q)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1796286	NM_004444.5(EPHB4):c.2808C>T (p.Phe936=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1796232	NM_004444.5(EPHB4):c.2802C>T (p.Gly934=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1462992	NM_004444.5(EPHB4):c.2791G>A (p.Ala931Thr)	EPHB4 (A931T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1796042	NM_004444.5(EPHB4):c.2790C>T (p.Ala930=)	EPHB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3224283	NM_004444.5(EPHB4):c.2787A>G (p.Ala929=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1795970	NM_004444.5(EPHB4):c.2784C>T (p.Phe928=)	EPHB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2584509	NM_004444.5(EPHB4):c.2772C>G (p.Tyr924Ter)	EPHB4 (Y924*)	Single nucleotide variant (nonsense)	EPHB4-related disorder	GLikely pathogenic
Select item 1795822	NM_004444.5(EPHB4):c.2772C>T (p.Tyr924=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1691389	NM_004444.5(EPHB4):c.2772C>A (p.Tyr924Ter)	EPHB4 (Y924*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2450402	NM_004444.5(EPHB4):c.2771A>G (p.Tyr924Cys)	EPHB4 (Y924C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450396	NM_004444.5(EPHB4):c.2770T>A (p.Tyr924Asn)	EPHB4 (Y924N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1505491	NM_004444.5(EPHB4):c.2767A>G (p.Arg923Gly)	EPHB4 (R923G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1503630	NM_004444.5(EPHB4):c.2750G>A (p.Arg917Gln)	EPHB4 (R917Q)	Single nucleotide variant (missense variant)	not provided	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 1936703	NM_004444.5(EPHB4):c.2718C>G (p.Tyr906Ter)	EPHB4 (Y906*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1795019	NM_004444.5(EPHB4):c.2709G>A (p.Gln903=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1484910	NM_004444.5(EPHB4):c.2704C>T (p.Arg902Trp)	EPHB4 (R902W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
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 1794863	NM_004444.5(EPHB4):c.2698G>C (p.Asp900His)	EPHB4 (D900H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1794763	NM_004444.5(EPHB4):c.2689C>G (p.Pro897Ala)	EPHB4 (P897A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1794761	NM_004444.5(EPHB4):c.2689C>A (p.Pro897Thr)	EPHB4 (P897T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1519089	NM_004444.5(EPHB4):c.2686C>T (p.His896Tyr)	EPHB4 (H896Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2562050	NM_004444.5(EPHB4):c.2682C>G (p.Ala894=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1330922	NM_004444.5(EPHB4):c.2679-18C>T	EPHB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2169900	NM_004444.5(EPHB4):c.2678+10G>A	EPHB4, LOC126860124	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1439577	NM_004444.5(EPHB4):c.2678+6G>A	EPHB4, LOC126860124	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1597847	NM_004444.5(EPHB4):c.2677G>A (p.Gly893Arg)	EPHB4, LOC126860124 (G893R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1794583	NM_004444.5(EPHB4):c.2673T>C (p.Asn891=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 774194	NM_004444.5(EPHB4):c.2670G>T (p.Glu890Asp)	EPHB4, LOC126860124 (E890D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1794499	NM_004444.5(EPHB4):c.2666G>A (p.Arg889Gln)	EPHB4, LOC126860124 (R889Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1307567	NM_004444.5(EPHB4):c.2665C>T (p.Arg889Trp)	EPHB4, LOC126860124 (R889W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708483	NM_004444.5(EPHB4):c.2658C>T (p.Ile886=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 768187	NM_004444.5(EPHB4):c.2644G>A (p.Ala882Thr)	EPHB4, LOC126860124 (A882T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1794214	NM_004444.5(EPHB4):c.2643C>A (p.Pro881=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1679471	NM_004444.5(EPHB4):c.2635C>T (p.Arg879Trp)	EPHB4, LOC126860124 (R879W)	Single nucleotide variant (missense variant)	not provided +1 more	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 691542	NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro)	LOC126860124, EPHB4 (L874P)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +1 more	GUncertain significance
Select item 2336257	NM_004444.5(EPHB4):c.2620C>G (p.Leu874Val)	EPHB4, LOC126860124 (L874V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1793859	NM_004444.5(EPHB4):c.2616C>T (p.Ser872=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 691553	NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu)	EPHB4, LOC126860124 (V870E)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance
Select item 1164042	NM_004444.5(EPHB4):c.2605dup (p.Gln869fs)	EPHB4, LOC126860124 (Q869fs)	Duplication (frameshift variant)	Capillary malformation-arteriovenous malformation 2	GPathogenic
Select item 1172836	NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser)	EPHB4, LOC126860124 (F867S)	Single nucleotide variant (missense variant)	Arteriovenous malformation	GPathogenic
Select item 691536	NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu)	LOC126860124, EPHB4 (F867L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2636571	NM_004444.5(EPHB4):c.2573_2598del (p.Gln858fs)	EPHB4, LOC126860124 (Q858fs)	Deletion (frameshift variant)	EPHB4-related disorder	GUncertain significance
Select item 2629283	NM_004444.5(EPHB4):c.2597G>A (p.Arg866His)	EPHB4, LOC126860124 (R866H)	Single nucleotide variant (missense variant)	EPHB4-related disorder	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 691551	NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp)	EPHB4, LOC126860124 (R864W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3275994	NM_004444.5(EPHB4):c.2587G>T (p.Ala863Ser)	EPHB4, LOC126860124 (A863S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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