ClinVar for Gene (Select 2051) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276005	NM_004445.6(EPHB6):c.508T>G (p.Ser170Ala)	EPHB6 (S170A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3276004	NM_004445.6(EPHB6):c.550C>G (p.Pro184Ala)	EPHB6 (P184A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3276003	NM_004445.6(EPHB6):c.754G>T (p.Gly252Trp)	EPHB6 (G252W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3276002	NM_004445.6(EPHB6):c.2441G>A (p.Arg814His)	EPHB6 (R521H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276001	NM_004445.6(EPHB6):c.827G>A (p.Gly276Asp)	EPHB6 (G276D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3276000	NM_004445.6(EPHB6):c.1021G>A (p.Ala341Thr)	EPHB6 (A48T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275999	NM_004445.6(EPHB6):c.1280G>A (p.Arg427His)	EPHB6 (R134H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275998	NM_004445.6(EPHB6):c.2332C>T (p.Arg778Trp)	EPHB6 (R485W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275997	NM_004445.6(EPHB6):c.398G>A (p.Arg133His)	EPHB6 (R133H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3089704	NM_004445.6(EPHB6):c.892G>A (p.Gly298Arg)	EPHB6 (G298R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089703	NM_004445.6(EPHB6):c.293G>A (p.Arg98His)	EPHB6 (R98H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3089702	NM_004445.6(EPHB6):c.2894G>T (p.Cys965Phe)	EPHB6 (C672F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089701	NM_004445.6(EPHB6):c.2893T>C (p.Cys965Arg)	EPHB6 (C672R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089700	NM_004445.6(EPHB6):c.2827C>G (p.Pro943Ala)	EPHB6 (P650A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089699	NM_004445.6(EPHB6):c.2788G>A (p.Gly930Arg)	EPHB6 (G637R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089698	NM_004445.6(EPHB6):c.2761C>T (p.Arg921Cys)	EPHB6 (R628C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089697	NM_004445.6(EPHB6):c.2701A>G (p.Lys901Glu)	EPHB6 (K901E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089696	NM_004445.6(EPHB6):c.2516A>G (p.His839Arg)	EPHB6 (H839R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089695	NM_004445.6(EPHB6):c.2315A>G (p.Gln772Arg)	EPHB6 (Q479R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089694	NM_004445.6(EPHB6):c.2164G>A (p.Ala722Thr)	EPHB6 (A722T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089693	NM_004445.6(EPHB6):c.2159G>A (p.Arg720Gln)	EPHB6 (R427Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3089692	NM_004445.6(EPHB6):c.2078G>A (p.Arg693Gln)	EPHB6 (R400Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089691	NM_004445.6(EPHB6):c.2077C>T (p.Arg693Trp)	EPHB6 (R693W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089690	NM_004445.6(EPHB6):c.1734C>G (p.Phe578Leu)	EPHB6 (F285L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089689	NM_004445.6(EPHB6):c.1700C>T (p.Ala567Val)	EPHB6 (A567V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089688	NM_004445.6(EPHB6):c.1334G>A (p.Arg445Gln)	EPHB6 (R152Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089687	NM_004445.6(EPHB6):c.1303G>A (p.Asp435Asn)	EPHB6 (D142N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089686	NM_004445.6(EPHB6):c.1282T>C (p.Cys428Arg)	EPHB6 (C135R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089685	NM_004445.6(EPHB6):c.1236A>T (p.Glu412Asp)	EPHB6 (E119D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089684	NM_004445.6(EPHB6):c.1021G>T (p.Ala341Ser)	EPHB6 (A341S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3061798	NM_018646.6(TRPV6):c.1168C>T (p.Arg390Cys)	EPHB6, TRPV6 (R390C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658106	NM_004445.6(EPHB6):c.1988C>T (p.Ala663Val)	EPHB6 (A370V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2610069	NM_004445.6(EPHB6):c.1201G>T (p.Asp401Tyr)	EPHB6 (D401Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601138	NM_004445.6(EPHB6):c.2057G>A (p.Arg686His)	EPHB6 (R393H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596719	NM_004445.6(EPHB6):c.2122G>A (p.Gly708Arg)	EPHB6 (G415R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2560070	NM_004445.6(EPHB6):c.737C>T (p.Thr246Met)	EPHB6 (T246M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2553586	NM_004445.6(EPHB6):c.1924G>A (p.Gly642Arg)	EPHB6 (G349R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550993	NM_004445.6(EPHB6):c.452G>T (p.Arg151Leu)	EPHB6 (R151L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2544119	NM_004445.6(EPHB6):c.2201G>A (p.Arg734Gln)	EPHB6 (R734Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541202	NM_004445.6(EPHB6):c.1927G>A (p.Val643Met)	EPHB6 (V350M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541049	NM_004445.6(EPHB6):c.1628C>T (p.Thr543Ile)	EPHB6 (T543I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520364	NM_004445.6(EPHB6):c.1241G>A (p.Arg414His)	EPHB6 (R414H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2484525	NM_004445.6(EPHB6):c.1232G>A (p.Cys411Tyr)	EPHB6 (C411Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470589	NM_004445.6(EPHB6):c.2225G>A (p.Ser742Asn)	EPHB6 (S742N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455598	NM_004445.6(EPHB6):c.865G>A (p.Gly289Arg)	EPHB6 (G289R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2412240	NM_004445.6(EPHB6):c.419G>C (p.Ser140Thr)	EPHB6 (S140T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2408219	NM_004445.6(EPHB6):c.1772C>T (p.Pro591Leu)	EPHB6 (P298L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403941	NM_004445.6(EPHB6):c.1069C>T (p.Arg357Trp)	EPHB6 (R64W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390542	NM_004445.6(EPHB6):c.1655G>T (p.Ser552Ile)	EPHB6 (S259I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386626	NM_004445.6(EPHB6):c.1310G>A (p.Arg437His)	EPHB6 (R437H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383302	NM_004445.6(EPHB6):c.1226A>G (p.Lys409Arg)	EPHB6 (K409R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378805	NM_004445.6(EPHB6):c.961G>T (p.Gly321Trp)	EPHB6 (G28W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372418	NM_004445.6(EPHB6):c.2626G>C (p.Glu876Gln)	EPHB6 (E876Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370978	NM_004445.6(EPHB6):c.1870C>T (p.Arg624Trp)	EPHB6 (R331W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361246	NM_004445.6(EPHB6):c.2377G>A (p.Val793Ile)	EPHB6 (V500I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359284	NM_004445.6(EPHB6):c.2384G>A (p.Arg795His)	EPHB6 (R502H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354535	NM_004445.6(EPHB6):c.2200C>T (p.Arg734Trp)	EPHB6 (R441W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342267	NM_004445.6(EPHB6):c.1020C>G (p.His340Gln)	EPHB6 (H340Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329462	NM_004445.6(EPHB6):c.589G>C (p.Val197Leu)	EPHB6 (V197L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2325376	NM_004445.6(EPHB6):c.2164G>T (p.Ala722Ser)	EPHB6 (A429S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321487	NM_004445.6(EPHB6):c.1586A>G (p.Gln529Arg)	EPHB6 (Q236R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318996	NM_004445.6(EPHB6):c.2441G>T (p.Arg814Leu)	EPHB6 (R814L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315330	NM_004445.6(EPHB6):c.311A>G (p.His104Arg)	EPHB6 (H104R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2300029	NM_004445.6(EPHB6):c.1238G>A (p.Gly413Asp)	EPHB6 (G120D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290546	NM_004445.6(EPHB6):c.2902G>A (p.Asp968Asn)	EPHB6 (D675N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287276	NM_004445.6(EPHB6):c.555C>A (p.His185Gln)	EPHB6 (H185Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279979	NM_004445.6(EPHB6):c.1822C>G (p.Leu608Val)	EPHB6 (L315V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270793	NM_004445.6(EPHB6):c.2714G>A (p.Arg905Gln)	EPHB6 (R612Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2260087	NM_004445.6(EPHB6):c.1354C>T (p.Arg452Trp)	EPHB6 (R452W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255275	NM_004445.6(EPHB6):c.494C>T (p.Pro165Leu)	EPHB6 (P165L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2254153	NM_004445.6(EPHB6):c.902G>A (p.Arg301His)	EPHB6 (R301H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235928	NM_004445.6(EPHB6):c.737C>A (p.Thr246Lys)	EPHB6 (T246K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2224064	NM_004445.6(EPHB6):c.1855G>A (p.Val619Ile)	EPHB6 (V326I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2213269	NM_004445.6(EPHB6):c.2212G>A (p.Val738Met)	EPHB6 (V738M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211227	NM_004445.6(EPHB6):c.1957G>A (p.Glu653Lys)	EPHB6 (E653K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1801753	NM_004445.6(EPHB6):c.197G>C (p.Arg66Pro)	EPHB6 (R66P)	Single nucleotide variant (5 prime UTR variant +2 more)	Myoepithelial tumor	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1705936	GRCh37/hg19 7q34(chr7:141937588-142716850)x3	EPHB6, KEL +7 more	Copy number gain	Newborn respiratory distress syndrome	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 689031	GRCh37/hg19 7q34(chr7:142565890-142706787)x3	EPHB6, KEL +3 more	Copy number gain	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687979	GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3	ARHGEF35, ARHGEF5 +44 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic

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