285220[Gene ID] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2204177	NM_001080448.3(EPHA6):c.29G>A (p.Arg10Lys)	EPHA6 (R10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608479	NM_001080448.3(EPHA6):c.105C>G (p.Cys35Trp)	EPHA6 (C35W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595125	NM_001080448.3(EPHA6):c.136C>T (p.Pro46Ser)	EPHA6 (P46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309535	NM_001080448.3(EPHA6):c.201G>C (p.Lys67Asn)	EPHA6 (K67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349256	NM_001080448.3(EPHA6):c.214A>G (p.Thr72Ala)	EPHA6 (T72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778089	NM_001080448.3(EPHA6):c.216C>T (p.Thr72=)	EPHA6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2391126	NM_001080448.3(EPHA6):c.217C>G (p.Gln73Glu)	EPHA6 (Q73E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089603	NM_001080448.3(EPHA6):c.223A>T (p.Thr75Ser)	EPHA6 (T75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242418	NM_001080448.3(EPHA6):c.242A>G (p.His81Arg)	EPHA6 (H81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544490	NM_001080448.3(EPHA6):c.335C>T (p.Pro112Leu)	EPHA6 (P112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493615	NM_001080448.3(EPHA6):c.347C>T (p.Ala116Val)	EPHA6 (A116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253087	NM_001080448.3(EPHA6):c.369C>A (p.His123Gln)	EPHA6 (H123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331422	NM_001080448.3(EPHA6):c.374C>T (p.Ser125Phe)	EPHA6 (S125F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375466	NM_001080448.3(EPHA6):c.379A>C (p.Asn127His)	EPHA6 (N127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152459	GRCh38/hg38 3q11.2(chr3:96917052-97094243)x1	EPHA6	Copy number loss	See cases	GUncertain significance
Select item 2342950	NM_001080448.3(EPHA6):c.562C>T (p.Arg188Cys)	EPHA6 (R188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329949	NM_001080448.3(EPHA6):c.569C>T (p.Ala190Val)	EPHA6 (A190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301175	NM_001080448.3(EPHA6):c.640A>G (p.Thr214Ala)	EPHA6 (T214A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259992	NM_001080448.3(EPHA6):c.643T>C (p.Cys215Arg)	EPHA6 (C215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239072	NM_001080448.3(EPHA6):c.677C>T (p.Ser226Leu)	EPHA6 (S226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269533	NM_001080448.3(EPHA6):c.724A>G (p.Ile242Val)	EPHA6 (I242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610713	NM_001080448.3(EPHA6):c.808G>A (p.Val270Met)	EPHA6 (V270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456372	NM_001080448.3(EPHA6):c.913G>A (p.Val305Ile)	EPHA6 (V305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089610	NM_001080448.3(EPHA6):c.917G>A (p.Arg306His)	EPHA6 (R306H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540119	NM_001080448.3(EPHA6):c.955G>A (p.Asp319Asn)	EPHA6 (D319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153906	GRCh38/hg38 3q11.2(chr3:97180221-97779365)x1	ARL6, EPHA6	Copy number loss	See cases	GUncertain significance
Select item 2216216	NM_001080448.3(EPHA6):c.1148G>A (p.Gly383Glu)	EPHA6 (G383E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089598	NM_001080448.3(EPHA6):c.1205C>T (p.Ser402Phe)	EPHA6 (S402F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622380	NM_001080448.3(EPHA6):c.1297G>T (p.Val433Phe)	EPHA6 (V433F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283751	NM_001080448.3(EPHA6):c.1480G>T (p.Val494Leu)	EPHA6 (V494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410716	NM_001080448.3(EPHA6):c.1495T>A (p.Phe499Ile)	EPHA6 (F499I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089600	NM_001080448.3(EPHA6):c.1499T>C (p.Val500Ala)	EPHA6 (V500A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264423	NM_001080448.3(EPHA6):c.1595C>T (p.Thr532Met)	EPHA6 (T532M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089601	NM_001080448.3(EPHA6):c.1692T>A (p.Asn564Lys)	EPHA6 (N564K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389758	NM_001080448.3(EPHA6):c.1790C>A (p.Thr597Lys)	EPHA6 (T597K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275929	NM_001080448.3(EPHA6):c.1841C>T (p.Ala614Val)	EPHA6 (A614V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653991	NM_001080448.3(EPHA6):c.1842G>A (p.Ala614=)	EPHA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2342379	NM_001080448.3(EPHA6):c.1904T>G (p.Met635Arg)	EPHA6 (M27R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257452	NM_001080448.3(EPHA6):c.1930G>A (p.Val644Met)	EPHA6 (V36M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2251715	NM_001080448.3(EPHA6):c.1969G>A (p.Val657Ile)	EPHA6 (V657I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373661	NM_001080448.3(EPHA6):c.2000G>T (p.Gly667Val)	EPHA6 (G59V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517992	NM_001080448.3(EPHA6):c.2129C>T (p.Ser710Phe)	EPHA6 (S710F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483851	NM_001080448.3(EPHA6):c.2141A>G (p.His714Arg)	EPHA6 (H106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316519	NM_001080448.3(EPHA6):c.2141A>T (p.His714Leu)	EPHA6 (H714L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089602	NM_001080448.3(EPHA6):c.2177G>A (p.Arg726His)	EPHA6 (R118H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222810	NM_001080448.3(EPHA6):c.2402T>C (p.Ile801Thr)	EPHA6 (I193T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276131	NM_001080448.3(EPHA6):c.2414C>T (p.Ala805Val)	EPHA6 (A197V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2550708	NM_001080448.3(EPHA6):c.2465C>T (p.Pro822Leu)	EPHA6 (P822L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237619	NM_001080448.3(EPHA6):c.2465C>A (p.Pro822Gln)	EPHA6 (P214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144866	GRCh38/hg38 3q11.2(chr3:97602099-97893838)x3	ARL6, CRYBG3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2382122	NM_001080448.3(EPHA6):c.2581G>C (p.Asp861His)	EPHA6 (D253H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089605	NM_001080448.3(EPHA6):c.2611G>A (p.Gly871Arg)	EPHA6 (G871R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275928	NM_001080448.3(EPHA6):c.2621G>A (p.Arg874Gln)	EPHA6 (R266Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246744	NM_001080448.3(EPHA6):c.2658G>A (p.Met886Ile)	EPHA6 (M886I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611860	NM_001080448.3(EPHA6):c.2722G>A (p.Val908Ile)	EPHA6 (V300I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373879	NM_001080448.3(EPHA6):c.2762C>T (p.Pro921Leu)	EPHA6 (P921L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530671	NM_001080448.3(EPHA6):c.2771C>T (p.Ala924Val)	EPHA6 (A316V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324461	NM_001080448.3(EPHA6):c.2774A>T (p.Tyr925Phe)	EPHA6 (Y925F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089606	NM_001080448.3(EPHA6):c.2792A>G (p.Lys931Arg)	EPHA6 (K931R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089607	NM_001080448.3(EPHA6):c.2947A>G (p.Ile983Val)	EPHA6 (I983V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259196	NM_001080448.3(EPHA6):c.3014A>G (p.His1005Arg)	EPHA6 (H1005R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540669	NM_001080448.3(EPHA6):c.3058A>G (p.Ile1020Val)	EPHA6 (I1020V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365630	NM_001080448.3(EPHA6):c.3118G>A (p.Asp1040Asn)	EPHA6 (D1040N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089608	NM_001080448.3(EPHA6):c.3155C>T (p.Pro1052Leu)	EPHA6 (P1052L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089609	NM_001080448.3(EPHA6):c.3323G>A (p.Arg1108Gln)	EPHA6 (R1108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148905	GRCh37/hg19 3q11.2(chr3:96308168-98033912)x1	GABRR3, ARL6 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 1809463	GRCh37/hg19 3q11.2(chr3:97283117-98218677)x3	ARL6, CRYBG3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1808444	GRCh37/hg19 3q11.2(chr3:97377527-97805568)x3	ARL6, CRYBG3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527032	GRCh37/hg19 3q11.2(chr3:96645720-97080001)	EPHA6	Copy number gain	not specified	GUncertain significance
Select item 1341319	GRCh37/hg19 3q11.1-11.2(chr3:93777422-96898993)x3	DHFR2, EPHA6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340793	GRCh37/hg19 3q11.2(chr3:96899065-97075611)x1	EPHA6	Copy number loss	not provided	GUncertain significance
Select item 1076146	NC_000003.11:g.(?_97194196)_(97510809_?)del	ARL6, EPHA6	Deletion	Bardet-Biedl syndrome 3 +1 more	GPathogenic
Select item 1056383	NC_000003.11:g.(?_97439105)_(97510809_?)dup	ARL6, EPHA6	Duplication	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 814465	GRCh37/hg19 3q11.2(chr3:96876610-97064426)x1	EPHA6	Copy number loss	not provided	GUncertain significance
Select item 814464	GRCh37/hg19 3q11.2(chr3:96850456-97974150)x3	GABRR3, OR5H1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687802	GRCh37/hg19 3q11.2(chr3:95466866-96720162)x1	EPHA6	Copy number loss	not provided	GUncertain significance
Select item 686969	GRCh37/hg19 3q11.2(chr3:97202610-97613231)x3	ARL6, CRYBG3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686889	GRCh37/hg19 3q11.2(chr3:97202610-97619980)x3	ARL6, CRYBG3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686108	GRCh37/hg19 3q11.2(chr3:97026202-97195767)x1	EPHA6	Copy number loss	not provided	GUncertain significance
Select item 685721	GRCh37/hg19 3q11.2(chr3:96583643-96835359)x1	EPHA6	Copy number loss	not provided	GUncertain significance
Select item 562796	GRCh37/hg19 3q11.2(chr3:96893629-97477877)x3	EPHA6	Copy number gain	not provided	GUncertain significance
Select item 442412	GRCh37/hg19 3q11.2(chr3:96579273-98216225)x3	ARL6, CRYBG3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 92