EPHA1[gene] - 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	LOC123956263, LOC123956264 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129999343, LOC129999344 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 781115	NM_005232.5(EPHA1):c.2889C>T (p.His963=)	EPHA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3089515	NM_005232.5(EPHA1):c.2884G>A (p.Gly962Arg)	EPHA1 (G962R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089514	NM_005232.5(EPHA1):c.2876C>T (p.Thr959Ile)	EPHA1 (T959I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089512	NM_005232.5(EPHA1):c.2807C>T (p.Ser936Leu)	EPHA1 (S936L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494573	NM_005232.5(EPHA1):c.2805C>G (p.His935Gln)	EPHA1 (H935Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213792	NM_005232.5(EPHA1):c.2785C>T (p.Arg929Cys)	EPHA1 (R929C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490553	NM_005232.5(EPHA1):c.2755T>C (p.Ser919Pro)	EPHA1 (S919P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216900	NM_005232.5(EPHA1):c.2741C>T (p.Pro914Leu)	EPHA1 (P914L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089511	NM_005232.5(EPHA1):c.2707C>T (p.Arg903Cys)	EPHA1 (R903C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405323	NM_005232.5(EPHA1):c.2702C>T (p.Thr901Ile)	EPHA1 (T901I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089510	NM_005232.5(EPHA1):c.2675C>T (p.Thr892Ile)	EPHA1, LOC121201616 (T892I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275882	NM_005232.5(EPHA1):c.2672G>A (p.Arg891Gln)	EPHA1, LOC121201616 (R891Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619458	NM_005232.5(EPHA1):c.2669T>C (p.Leu890Pro)	EPHA1, LOC121201616 (L890P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709220	NM_005232.5(EPHA1):c.2616C>T (p.His872=)	EPHA1, LOC121201616	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2509548	NM_005232.5(EPHA1):c.2608C>T (p.Arg870Trp)	EPHA1, LOC121201616 (R870W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271896	NM_005232.5(EPHA1):c.2603C>G (p.Ala868Gly)	EPHA1, LOC121201616 (A868G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308946	NM_005232.5(EPHA1):c.2599C>T (p.Arg867Cys)	EPHA1, LOC121201616 (R867C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275881	NM_005232.5(EPHA1):c.2531G>A (p.Arg844Gln)	EPHA1 (R844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290226	NM_005232.5(EPHA1):c.2491A>T (p.Ser831Cys)	EPHA1 (S831C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530248	NM_005232.5(EPHA1):c.2425G>A (p.Val809Met)	EPHA1 (V809M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089509	NM_005232.5(EPHA1):c.2401C>G (p.Arg801Gly)	EPHA1 (R801G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522666	NM_005232.5(EPHA1):c.2401C>T (p.Arg801Trp)	EPHA1 (R801W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244646	NM_005232.5(EPHA1):c.2371C>T (p.Arg791Cys)	EPHA1 (R791C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234950	NM_005232.5(EPHA1):c.2357G>C (p.Gly786Ala)	EPHA1 (G786A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717391	NM_005232.5(EPHA1):c.2353-10G>A	EPHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2613429	NM_005232.5(EPHA1):c.2236G>A (p.Val746Ile)	EPHA1 (V746I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721797	NM_005232.5(EPHA1):c.2071G>A (p.Val691Ile)	EPHA1 (V691I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2484209	NM_005232.5(EPHA1):c.2065G>A (p.Glu689Lys)	EPHA1 (E689K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089508	NM_005232.5(EPHA1):c.2048C>T (p.Pro683Leu)	EPHA1 (P683L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371483	NM_005232.5(EPHA1):c.1998G>C (p.Gln666His)	EPHA1 (Q666H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275886	NM_005232.5(EPHA1):c.1990G>C (p.Gly664Arg)	EPHA1 (G664R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617063	NM_005232.5(EPHA1):c.1985C>A (p.Ser662Tyr)	EPHA1 (S662Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278556	NM_005232.5(EPHA1):c.1874T>C (p.Met625Thr)	EPHA1, LOC123956258 (M625T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535109	NM_005232.5(EPHA1):c.1852G>C (p.Glu618Gln)	EPHA1, LOC123956258 (E618Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089506	NM_005232.5(EPHA1):c.1849C>T (p.Arg617Trp)	EPHA1, LOC123956258 (R617W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384582	NM_005232.5(EPHA1):c.1816G>A (p.Glu606Lys)	EPHA1 (E606K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735778	NM_005232.5(EPHA1):c.1771+10G>A	EPHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 718475	NM_005232.5(EPHA1):c.1771+7C>T	EPHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2523685	NM_005232.5(EPHA1):c.1745G>A (p.Arg582His)	EPHA1 (R582H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365267	NM_005232.5(EPHA1):c.1723C>T (p.Arg575Trp)	EPHA1 (R575W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472195	NM_005232.5(EPHA1):c.1709C>T (p.Ser570Phe)	EPHA1 (S570F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317986	NM_005232.5(EPHA1):c.1706G>A (p.Arg569Gln)	EPHA1 (R569Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549345	NM_005232.5(EPHA1):c.1651G>A (p.Val551Ile)	EPHA1 (V551I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213327	NM_005232.5(EPHA1):c.1496C>T (p.Pro499Leu)	EPHA1 (P499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089505	NM_005232.5(EPHA1):c.1487T>C (p.Val496Ala)	EPHA1 (V496A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527342	NM_005232.5(EPHA1):c.1417C>G (p.Arg473Gly)	EPHA1 (R473G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244002	NM_005232.5(EPHA1):c.1370A>T (p.Lys457Met)	EPHA1 (K457M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275887	NM_005232.5(EPHA1):c.1307C>T (p.Thr436Ile)	EPHA1 (T436I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089504	NM_005232.5(EPHA1):c.1262C>T (p.Ala421Val)	EPHA1 (A421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280794	NM_005232.5(EPHA1):c.1181C>T (p.Pro394Leu)	EPHA1 (P394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089503	NM_005232.5(EPHA1):c.1138G>A (p.Gly380Arg)	EPHA1 (G380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365912	NM_005232.5(EPHA1):c.1123G>A (p.Gly375Ser)	EPHA1 (G375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089502	NM_005232.5(EPHA1):c.1040A>G (p.Gln347Arg)	EPHA1 (Q347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535370	NM_005232.5(EPHA1):c.1025C>G (p.Ser342Cys)	EPHA1 (S342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717222	NM_005232.5(EPHA1):c.1005C>T (p.Ala335=)	EPHA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252683	NM_005232.5(EPHA1):c.978G>C (p.Gln326His)	EPHA1 (Q326H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738437	NM_005232.5(EPHA1):c.942G>A (p.Glu314=)	EPHA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319191	NM_005232.5(EPHA1):c.867G>A (p.Met289Ile)	EPHA1 (M289I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089523	NM_005232.5(EPHA1):c.865A>G (p.Met289Val)	EPHA1 (M289V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 727725	NM_005232.5(EPHA1):c.835+8C>T	EPHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2238552	NM_005232.5(EPHA1):c.823G>A (p.Glu275Lys)	EPHA1 (E275K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275885	NM_005232.5(EPHA1):c.805G>C (p.Glu269Gln)	EPHA1 (E269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089522	NM_005232.5(EPHA1):c.800G>A (p.Gly267Asp)	EPHA1 (G267D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482082	NM_005232.5(EPHA1):c.796C>T (p.Pro266Ser)	EPHA1 (P266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089521	NM_005232.5(EPHA1):c.782G>A (p.Arg261Gln)	EPHA1 (R261Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089519	NM_005232.5(EPHA1):c.707G>A (p.Arg236Gln)	EPHA1 (R236Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 752652	NM_005232.5(EPHA1):c.690C>T (p.Thr230=)	EPHA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614857	NM_005232.5(EPHA1):c.688A>T (p.Thr230Ser)	EPHA1 (T230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275883	NM_005232.5(EPHA1):c.634G>T (p.Ala212Ser)	EPHA1 (A212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387811	NM_005232.5(EPHA1):c.628G>A (p.Gly210Ser)	EPHA1 (G210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264770	NM_005232.5(EPHA1):c.606G>C (p.Gln202His)	EPHA1 (Q202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275880	NM_005232.5(EPHA1):c.535C>T (p.Arg179Cys)	EPHA1 (R179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362927	NM_005232.5(EPHA1):c.532C>T (p.Arg178Cys)	EPHA1 (R178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266489	NM_005232.5(EPHA1):c.524G>A (p.Arg175His)	EPHA1 (R175H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342765	NM_005232.5(EPHA1):c.491T>C (p.Val164Ala)	EPHA1 (V164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550992	NM_005232.5(EPHA1):c.470G>A (p.Arg157Gln)	EPHA1 (R157Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089517	NM_005232.5(EPHA1):c.463A>G (p.Thr155Ala)	EPHA1 (T155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549499	NM_005232.5(EPHA1):c.416G>A (p.Arg139Gln)	EPHA1 (R139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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