ClinVar for MedGen (Select 934596) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672234	NM_004444.5(EPHB4):c.2213A>G (p.His738Arg)	EPHB4 (H738R)	Single nucleotide variant (missense variant)	Lymphatic malformation 7	GUncertain significance
Select item 2521643	NM_004444.5(EPHB4):c.2522C>T (p.Pro841Leu)	EPHB4, LOC126860124 (P841L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2494726	NM_004444.5(EPHB4):c.2576A>G (p.Lys859Arg)	EPHB4, LOC126860124 (K859R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1805925	NM_004444.5(EPHB4):c.2354G>A (p.Arg785Gln)	EPHB4, LOC126860124 (R785Q)	Single nucleotide variant (missense variant)	Lymphatic malformation 7 +1 more	GPathogenic/Likely pathogenic
Select item 1792379	NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)	EPHB4 (V84I)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +2 more	GConflicting classifications of pathogenicity
Select item 1344631	NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly)	EPHB4 (A509G)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +1 more	GUncertain significance
Select item 1284339	NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser)	EPHB4 (T356S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 811649	NM_004444.5(EPHB4):c.1422+3A>G	EPHB4	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation 2 +3 more	GBenign
Select item 811646	NM_004444.5(EPHB4):c.1752A>G (p.Gly584=)	EPHB4	Single nucleotide variant (synonymous variant)	Lymphatic malformation 7 +3 more	GBenign
Select item 811643	NM_004444.5(EPHB4):c.1314T>C (p.Ser438=)	EPHB4	Single nucleotide variant (synonymous variant)	Lymphatic malformation 7 +3 more	GBenign
Select item 811002	NM_004444.5(EPHB4):c.52+14C>G	SLC12A9, EPHB4	Single nucleotide variant (5 prime UTR variant +1 more)	Lymphatic malformation 7 +2 more	GBenign
Select item 811000	NM_004444.5(EPHB4):c.1890C>T (p.Cys630=)	EPHB4	Single nucleotide variant (synonymous variant)	Lymphatic malformation 7 +3 more	GBenign
Select item 778328	NM_004444.5(EPHB4):c.1743T>C (p.Tyr581=)	EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 708347	NM_004444.5(EPHB4):c.1112C>T (p.Ala371Val)	EPHB4 (A371V)	Single nucleotide variant (missense variant)	EPHB4-related condition +3 more	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 691534	NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr)	EPHB4, LOC126860124 (C856Y)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +1 more	GConflicting classifications of pathogenicity
Select item 599047	NM_004444.5(EPHB4):c.2334+1G>C	EPHB4	Single nucleotide variant (splice donor variant)	Lymphatic malformation 7	GPathogenic
Select item 374837	NM_004444.5(EPHB4):c.2345T>G (p.Ile782Ser)	EPHB4, LOC126860124 (I782S)	Single nucleotide variant (missense variant)	Lymphatic malformation 7	GPathogenic
Select item 374836	NM_004444.5(EPHB4):c.2216G>A (p.Arg739Gln)	EPHB4 (R739Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic