3393[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 111

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 3353232	NM_017449.5(EPHB2):c.78C>T (p.Ser26=)	EPHB2	Single nucleotide variant (synonymous variant)	EPHB2-related disorder	GLikely benign
Select item 2570099	NM_017449.5(EPHB2):c.164C>T (p.Thr55Met)	EPHB2 (T55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272727	NM_017449.5(EPHB2):c.170G>A (p.Arg57His)	EPHB2 (R57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752283	NM_017449.5(EPHB2):c.210C>T (p.Asn70=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793553	NM_017449.5(EPHB2):c.240C>A (p.Arg80=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736600	NM_017449.5(EPHB2):c.261C>T (p.His87=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035904	NM_017449.5(EPHB2):c.279G>A (p.Ser93=)	EPHB2	Single nucleotide variant (synonymous variant)	EPHB2-related disorder	GLikely benign
Select item 2480813	NM_017449.5(EPHB2):c.344A>G (p.Tyr115Cys)	EPHB2 (Y115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089664	NM_017449.5(EPHB2):c.391A>G (p.Met131Val)	EPHB2 (M131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542069	NM_017449.5(EPHB2):c.393G>A (p.Met131Ile)	EPHB2 (M131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537440	NM_017449.5(EPHB2):c.430G>A (p.Asp144Asn)	EPHB2 (D144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485440	NM_017449.5(EPHB2):c.502C>T (p.Pro168Ser)	EPHB2 (P168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770326	NM_017449.5(EPHB2):c.510C>T (p.Ser170=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374379	NM_017449.5(EPHB2):c.512G>A (p.Arg171His)	EPHB2 (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403648	NM_017449.5(EPHB2):c.547G>A (p.Gly183Ser)	EPHB2 (G183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749379	NM_017449.5(EPHB2):c.561C>T (p.Leu187=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600806	NM_017449.5(EPHB2):c.565G>A (p.Ala189Thr)	EPHB2 (A189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585137	NM_017449.5(EPHB2):c.595C>T (p.Arg199Cys)	EPHB2 (R199C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 767661	NM_017449.5(EPHB2):c.624G>A (p.Gln208=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3053272	NM_017449.5(EPHB2):c.654G>T (p.Ser218=)	EPHB2	Single nucleotide variant (synonymous variant)	EPHB2-related disorder	GLikely benign
Select item 732340	NM_017449.5(EPHB2):c.657G>A (p.Leu219=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2537814	NM_017449.5(EPHB2):c.673A>G (p.Ser225Gly)	EPHB2 (S225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745924	NM_017449.5(EPHB2):c.681C>T (p.Ile227=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638470	NM_017449.5(EPHB2):c.690G>A (p.Ala230=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3348511	NM_017449.5(EPHB2):c.718T>G (p.Tyr240Asp)	EPHB2 (Y240D)	Single nucleotide variant (missense variant)	EPHB2-related disorder	GUncertain significance
Select item 765593	NM_017449.5(EPHB2):c.726C>T (p.Asn242=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744998	NM_017449.5(EPHB2):c.732C>T (p.Asp244=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3275959	NM_017449.5(EPHB2):c.758G>A (p.Arg253His)	EPHB2 (R253H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638471	NM_017449.5(EPHB2):c.780C>T (p.Phe260=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 221961	NM_017449.5(EPHB2):c.787G>A (p.Val263Ile)	EPHB2 (V263I)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis	GLikely benign
Select item 450348	NM_017449.5(EPHB2):c.812-3C>G	EPHB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 8533	NM_017449.5(EPHB2):c.835G>T (p.Ala279Ser)	EPHB2 (A279S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 754697	NM_017449.5(EPHB2):c.909T>C (p.Cys303=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786719	NM_017449.5(EPHB2):c.930C>T (p.Tyr310=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2242490	NM_017449.5(EPHB2):c.945C>G (p.Asp315Glu)	EPHB2, MIR4253 (D315E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3045801	NM_017449.5(EPHB2):c.968-7G>A	EPHB2	Single nucleotide variant (intron variant)	EPHB2-related disorder	GLikely benign
Select item 733391	NM_017449.5(EPHB2):c.981G>A (p.Ala327=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777746	NM_017449.5(EPHB2):c.1106G>A (p.Arg369Gln)	EPHB2 (R369Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2692208	NM_017449.5(EPHB2):c.1150C>T (p.Arg384Cys)	EPHB2 (R384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740850	NM_017449.5(EPHB2):c.1185C>T (p.Ile395=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2284260	NM_017449.5(EPHB2):c.1186A>G (p.Ser396Gly)	EPHB2 (S396G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740174	NM_017449.5(EPHB2):c.1233G>C (p.Val411=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2406116	NM_017449.5(EPHB2):c.1240G>A (p.Val414Ile)	EPHB2 (V414I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2396218	NM_017449.5(EPHB2):c.1246G>A (p.Asp416Asn)	EPHB2 (D416N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089659	NM_017449.5(EPHB2):c.1340G>A (p.Arg447His)	EPHB2 (R447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737959	NM_017449.5(EPHB2):c.1365G>A (p.Ser455=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278245	NM_017449.5(EPHB2):c.1373A>G (p.Gln458Arg)	EPHB2 (Q458R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1174978	NM_017449.5(EPHB2):c.1377G>A (p.Pro459=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711269	NM_017449.5(EPHB2):c.1429G>A (p.Glu477Lys)	EPHB2 (E477K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 745287	NM_017449.5(EPHB2):c.1476G>A (p.Thr492=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089660	NM_017449.5(EPHB2):c.1501G>A (p.Gly501Ser)	EPHB2 (G501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344495	NM_017449.5(EPHB2):c.1536C>T (p.Thr512=)	EPHB2	Single nucleotide variant (synonymous variant)	EPHB2-related disorder	GLikely benign
Select item 1174736	NM_017449.5(EPHB2):c.1545T>C (p.Gly515=)	EPHB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 783133	NM_017449.5(EPHB2):c.1545= (p.Gly515=)	EPHB2	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 3089661	NM_017449.5(EPHB2):c.1578G>C (p.Gln526His)	EPHB2 (Q526H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275960	NM_017449.5(EPHB2):c.1596G>T (p.Glu532Asp)	EPHB2 (E532D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089662	NM_017449.5(EPHB2):c.1602G>C (p.Gln534His)	EPHB2 (Q534H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746774	NM_017449.5(EPHB2):c.1689C>A (p.Ile563=)	EPHB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 722170	NM_017449.5(EPHB2):c.1700+10G>A	EPHB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736027	NM_017449.5(EPHB2):c.1704G>A (p.Arg568=)	EPHB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717437	NM_017449.5(EPHB2):c.1722C>T (p.Asp574=)	EPHB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3030087	NM_017449.5(EPHB2):c.1749C>T (p.His583=)	EPHB2	Single nucleotide variant (synonymous variant +1 more)	EPHB2-related disorder	GLikely benign
Select item 725446	NM_017449.5(EPHB2):c.1766-9G>T	EPHB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3033967	NM_017449.5(EPHB2):c.1788C>T (p.Tyr596=)	EPHB2	Single nucleotide variant (synonymous variant)	EPHB2-related disorder	GLikely benign
Select item 2541311	NM_017449.5(EPHB2):c.1810G>A (p.Asp604Asn)	EPHB2 (D604N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230535	NM_017449.5(EPHB2):c.1817A>G (p.Asn606Ser)	EPHB2 (N607S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795120	NM_017449.5(EPHB2):c.1853T>A (p.Ile618Asn)	EPHB2 (I560N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782365	NM_017449.5(EPHB2):c.1888+9C>T	EPHB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2513272	NM_017449.5(EPHB2):c.1931G>T (p.Gly644Val)	EPHB2 (G644V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786983	NM_017449.5(EPHB2):c.1949T>C (p.Val650Ala)	EPHB2 (V650A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780763	NM_017449.5(EPHB2):c.1956C>T (p.Ile652=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3275961	NM_017449.5(EPHB2):c.1970C>T (p.Ser657Leu)	EPHB2 (S658L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753406	NM_017449.5(EPHB2):c.2031C>T (p.Phe677=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8534	NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn)	EPHB2 (D679N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2471913	NM_017449.5(EPHB2):c.2034C>A (p.Asp678Glu)	EPHB2 (D678E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724716	NM_017449.5(EPHB2):c.2127C>T (p.Ser709=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8532	NM_017449.5(EPHB2):c.2164C>T (p.Gln722Ter)	EPHB2 (Q723* +2 more)	Single nucleotide variant (nonsense)	Prostate cancer/brain cancer susceptibility	GPathogenic
Select item 725130	NM_017449.5(EPHB2):c.2226T>C (p.Tyr742=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 633783	NM_017449.5(EPHB2):c.2233C>T (p.Arg745Cys)	EPHB2 (R745C +2 more)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 22	GPathogenic
Select item 3036596	NM_017449.5(EPHB2):c.2265C>T (p.Asn755=)	EPHB2	Single nucleotide variant (synonymous variant)	EPHB2-related disorder	GLikely benign
Select item 2553290	NM_017449.5(EPHB2):c.2275G>A (p.Val759Ile)	EPHB2 (V760I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735870	NM_017449.5(EPHB2):c.2319C>T (p.Asp773=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757402	NM_017449.5(EPHB2):c.2355C>T (p.Gly785=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376739	NM_017449.5(EPHB2):c.2356G>A (p.Gly786Arg)	EPHB2 (G786R +2 more)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine	GLikely pathogenic
Select item 3049294	NM_017449.5(EPHB2):c.2409C>T (p.Phe803=)	EPHB2	Single nucleotide variant (synonymous variant)	EPHB2-related disorder	GLikely benign
Select item 3045556	NM_017449.5(EPHB2):c.2415G>A (p.Ser805=)	EPHB2	Single nucleotide variant (synonymous variant)	EPHB2-related disorder	GLikely benign
Select item 2288154	NM_017449.5(EPHB2):c.2520G>T (p.Glu840Asp)	EPHB2 (E782D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530324	NM_017449.5(EPHB2):c.2560G>A (p.Ala854Thr)	EPHB2 (A855T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770842	NM_017449.5(EPHB2):c.2625A>G (p.Gln875=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2268223	NM_017449.5(EPHB2):c.2636C>T (p.Thr879Met)	EPHB2 (T879M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738084	NM_017449.5(EPHB2):c.2640A>G (p.Leu880=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321749	NM_017449.5(EPHB2):c.2689T>C (p.Ser897Pro)	EPHB2 (S898P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488028	NM_017449.5(EPHB2):c.2690C>A (p.Ser897Tyr)	EPHB2 (S839Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739040	NM_017449.5(EPHB2):c.2697-9C>T	EPHB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2296250	NM_017449.5(EPHB2):c.2733C>A (p.Asp911Glu)	EPHB2 (D912E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753989	NM_017449.5(EPHB2):c.2751G>A (p.Thr917=)	EPHB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2466338	NM_017449.5(EPHB2):c.2792A>C (p.Lys931Thr)	EPHB2 (K932T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058618	NM_017449.5(EPHB2):c.*120G>A	EPHB2	Single nucleotide variant (3 prime UTR variant +1 more)	EPHB2-related disorder	GLikely benign
Select item 3068032	NM_017449.5(EPHB2):c.174_181dup	EPHB2 (G1017fs)	Duplication (3 prime UTR variant +1 more)	Bleeding disorder, platelet-type, 22	GUncertain significance

<< First< Prev

Page of 2