3390[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 151600	GRCh38/hg38 6q15-16.1(chr6:90687494-93806515)x1	CASC6, EPHA7 +15 more	Copy number loss	See cases	GPathogenic
Select item 147861	GRCh38/hg38 6q15-16.1(chr6:90888950-93582834)x1	CASC6, EPHA7 +14 more	Copy number loss	See cases	GUncertain significance
Select item 2560261	NM_004440.4(EPHA7):c.2943T>G (p.Ile981Met)	EPHA7 (I972M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335275	NM_004440.4(EPHA7):c.2883G>T (p.Glu961Asp)	EPHA7 (E885D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615128	NM_004440.4(EPHA7):c.2804T>A (p.Ile935Asn)	EPHA7 (I926N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557422	NM_004440.4(EPHA7):c.2767A>T (p.Thr923Ser)	EPHA7 (T918S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241524	NM_004440.4(EPHA7):c.2723G>C (p.Ser908Thr)	EPHA7 (S899T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261978	NM_004440.4(EPHA7):c.2710C>G (p.Leu904Val)	EPHA7 (L828V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495886	NM_004440.4(EPHA7):c.2621A>C (p.Gln874Pro)	EPHA7 (Q798P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344569	NM_004440.4(EPHA7):c.2561G>A (p.Arg854His)	EPHA7 (R778H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1331194	NM_004440.4(EPHA7):c.2076G>A (p.Pro692=)	EPHA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2309397	NM_004440.4(EPHA7):c.2014A>G (p.Thr672Ala)	EPHA7 (T663A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354764	NM_004440.4(EPHA7):c.2006T>C (p.Val669Ala)	EPHA7 (V660A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465924	NM_004440.4(EPHA7):c.1963C>G (p.Pro655Ala)	EPHA7 (P650A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478919	NM_004440.4(EPHA7):c.1951C>A (p.Arg651Ser)	EPHA7 (R575S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548766	NM_004440.4(EPHA7):c.1934G>T (p.Gly645Val)	EPHA7 (G569V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335661	NM_004440.4(EPHA7):c.1918G>T (p.Gly640Cys)	EPHA7 (G564C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623695	NM_004440.4(EPHA7):c.1699A>G (p.Ile567Val)	EPHA7 (I491V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479199	NM_004440.4(EPHA7):c.1567T>C (p.Tyr523His)	EPHA7 (Y523H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2689027	NM_004440.4(EPHA7):c.1547G>A (p.Arg516Gln)	EPHA7 (R440Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2599860	NM_004440.4(EPHA7):c.1502C>T (p.Ser501Phe)	EPHA7 (S501F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397814	NM_004440.4(EPHA7):c.1370G>A (p.Arg457Gln)	EPHA7 (R381Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656776	NM_004440.4(EPHA7):c.1344A>T (p.Gly448=)	EPHA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656777	NM_004440.4(EPHA7):c.1281C>T (p.Ser427=)	EPHA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2338374	NM_004440.4(EPHA7):c.1252G>A (p.Val418Ile)	EPHA7 (V342I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475351	NM_004440.4(EPHA7):c.1204G>A (p.Val402Ile)	EPHA7 (V402I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410547	NM_004440.4(EPHA7):c.1153A>G (p.Asn385Asp)	EPHA7 (N309D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383830	NM_004440.4(EPHA7):c.1118G>T (p.Ser373Ile)	EPHA7 (S297I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026099	NM_004440.4(EPHA7):c.1112G>A (p.Arg371Gln)	EPHA7 (R295Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2568528	NM_004440.4(EPHA7):c.1103T>C (p.Leu368Ser)	EPHA7 (L292S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2562196	NM_004440.4(EPHA7):c.1083C>G (p.Asn361Lys)	EPHA7 (N285K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486033	NM_004440.4(EPHA7):c.1049A>C (p.Glu350Ala)	EPHA7 (E274A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377895	NM_004440.4(EPHA7):c.1015A>G (p.Ile339Val)	EPHA7 (I263V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299929	NM_004440.4(EPHA7):c.892A>G (p.Thr298Ala)	EPHA7 (T222A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1230244	NM_004440.4(EPHA7):c.832+27C>T	EPHA7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1239265	NM_004440.4(EPHA7):c.832C>T (p.Pro278Ser)	EPHA7 (P202S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2512273	NM_004440.4(EPHA7):c.71C>A (p.Thr24Lys)	EPHA7 (T24K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492598	NM_004440.4(EPHA7):c.56T>A (p.Leu19His)	EPHA7 (L19H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	FAXC, ASCC3 +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 814847	GRCh37/hg19 6q16.1(chr6:93360835-95090661)x1	EPHA7	Copy number loss	not provided	GUncertain significance
Select item 689259	GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3	ANKRD6, BACH2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688849	GRCh37/hg19 6q16.1(chr6:93944739-94086819)x3	EPHA7	Copy number gain	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442688	GRCh37/hg19 6q15-16.1(chr6:89941373-95634177)x3	ANKRD6, BACH2 +9 more	Copy number gain	See cases	GLikely benign

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Items: 56