ClinVar for Gene (Select 57556) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317391	NM_020796.5(SEMA6A):c.1463T>C (p.Met488Thr)	SEMA6A (M488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317390	NM_020796.5(SEMA6A):c.2317G>A (p.Gly773Ser)	SEMA6A (G773S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317389	NM_020796.5(SEMA6A):c.2301G>T (p.Lys767Asn)	SEMA6A (K784N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317388	NM_020796.5(SEMA6A):c.2872A>C (p.Asn958His)	SEMA6A (N958H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317387	NM_020796.5(SEMA6A):c.2434A>G (p.Ile812Val)	SEMA6A (I812V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317386	NM_020796.5(SEMA6A):c.2377C>G (p.Pro793Ala)	SEMA6A (P793A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159897	NM_020796.5(SEMA6A):c.919G>A (p.Gly307Arg)	SEMA6A (G307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159896	NM_020796.5(SEMA6A):c.893C>A (p.Ala298Glu)	SEMA6A (A298E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159895	NM_020796.5(SEMA6A):c.865T>G (p.Ser289Ala)	SEMA6A (S289A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159894	NM_020796.5(SEMA6A):c.709A>G (p.Arg237Gly)	LOC126807485, SEMA6A (R237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159893	NM_020796.5(SEMA6A):c.50G>C (p.Gly17Ala)	SEMA6A (G17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159892	NM_020796.5(SEMA6A):c.2707C>T (p.Arg903Trp)	SEMA6A (R903W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159891	NM_020796.5(SEMA6A):c.2678C>A (p.Ala893Asp)	SEMA6A (A893D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159890	NM_020796.5(SEMA6A):c.2672C>A (p.Pro891Gln)	SEMA6A (P908Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159889	NM_020796.5(SEMA6A):c.2564T>G (p.Ile855Ser)	SEMA6A (I855S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159888	NM_020796.5(SEMA6A):c.2501A>G (p.Lys834Arg)	SEMA6A (K851R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159887	NM_020796.5(SEMA6A):c.2030G>A (p.Arg677Gln)	SEMA6A, SEMA6A-AS1 (R677Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3159886	NM_020796.5(SEMA6A):c.1897G>C (p.Val633Leu)	SEMA6A, SEMA6A-AS1 (V633L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159885	NM_020796.5(SEMA6A):c.1550G>A (p.Arg517Gln)	SEMA6A (R517Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159884	NM_020796.5(SEMA6A):c.1436A>G (p.Tyr479Cys)	SEMA6A (Y479C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2655652	NM_020796.5(SEMA6A):c.1692T>C (p.Gly564=)	SEMA6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612984	NM_020796.5(SEMA6A):c.915C>G (p.Ile305Met)	SEMA6A (I305M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591301	NM_020796.5(SEMA6A):c.2302C>T (p.Arg768Trp)	SEMA6A (R785W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588132	NM_020796.5(SEMA6A):c.1853C>A (p.Pro618His)	SEMA6A, SEMA6A-AS1 (P618H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571587	NM_020796.5(SEMA6A):c.1268T>C (p.Ile423Thr)	SEMA6A (I423T)	Single nucleotide variant (missense variant)	Delayed puberty, self-limited	GLikely pathogenic
Select item 2558483	NM_020796.5(SEMA6A):c.2773C>T (p.Leu925Phe)	SEMA6A (L942F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550649	NM_020796.5(SEMA6A):c.3017T>G (p.Leu1006Arg)	SEMA6A (L1023R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550550	NM_020796.5(SEMA6A):c.1115C>T (p.Ser372Leu)	SEMA6A (S372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549876	NM_020796.5(SEMA6A):c.2086C>T (p.Arg696Trp)	SEMA6A, SEMA6A-AS1 (R713W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547478	NM_020796.5(SEMA6A):c.1588G>A (p.Asp530Asn)	SEMA6A (D530N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540785	NM_020796.5(SEMA6A):c.1132T>C (p.Tyr378His)	SEMA6A (Y378H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534919	NM_020796.5(SEMA6A):c.2751G>C (p.Lys917Asn)	SEMA6A (K917N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527812	NM_020796.5(SEMA6A):c.1279A>C (p.Thr427Pro)	SEMA6A (T427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526498	NM_020796.5(SEMA6A):c.959A>G (p.Asn320Ser)	SEMA6A (N320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525226	NM_020796.5(SEMA6A):c.1926C>A (p.His642Gln)	SEMA6A, SEMA6A-AS1 (H642Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2483805	NM_020796.5(SEMA6A):c.2239C>A (p.Gln747Lys)	SEMA6A (Q747K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458886	NM_020796.5(SEMA6A):c.143G>A (p.Arg48Gln)	SEMA6A (R48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406282	NM_020796.5(SEMA6A):c.2462C>T (p.Thr821Met)	SEMA6A (T838M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398964	NM_020796.5(SEMA6A):c.385G>A (p.Asp129Asn)	SEMA6A (D129N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382717	NM_020796.5(SEMA6A):c.3008C>T (p.Thr1003Met)	SEMA6A (T1003M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381327	NM_020796.5(SEMA6A):c.14C>A (p.Ala5Asp)	SEMA6A (A5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377315	NM_020796.5(SEMA6A):c.686G>C (p.Gly229Ala)	LOC126807485, SEMA6A (G229A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368406	NM_020796.5(SEMA6A):c.2455C>T (p.Pro819Ser)	SEMA6A (P836S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358924	NM_020796.5(SEMA6A):c.186G>A (p.Met62Ile)	SEMA6A (M62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358517	NM_020796.5(SEMA6A):c.2914C>T (p.His972Tyr)	SEMA6A (H989Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355272	NM_020796.5(SEMA6A):c.1816T>C (p.Trp606Arg)	SEMA6A, SEMA6A-AS1 (W606R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329396	NM_020796.5(SEMA6A):c.1193T>A (p.Met398Lys)	SEMA6A (M398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316399	NM_020796.5(SEMA6A):c.473A>C (p.Glu158Ala)	SEMA6A (E158A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305523	NM_020796.5(SEMA6A):c.2998C>G (p.Leu1000Val)	SEMA6A (L1017V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305055	NM_020796.5(SEMA6A):c.2794A>T (p.Thr932Ser)	SEMA6A (T932S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295867	NM_020796.5(SEMA6A):c.1145A>G (p.Asn382Ser)	SEMA6A (N382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283116	NM_020796.5(SEMA6A):c.192G>A (p.Met64Ile)	SEMA6A (M64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279638	NM_020796.5(SEMA6A):c.2609T>C (p.Leu870Pro)	SEMA6A (L870P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279362	NM_020796.5(SEMA6A):c.202C>G (p.Leu68Val)	SEMA6A (L68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275593	NM_020796.5(SEMA6A):c.307G>A (p.Asp103Asn)	SEMA6A (D103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266532	NM_020796.5(SEMA6A):c.2578A>G (p.Ser860Gly)	SEMA6A (S860G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261740	NM_020796.5(SEMA6A):c.2528T>C (p.Leu843Pro)	SEMA6A (L860P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260373	NM_020796.5(SEMA6A):c.1493C>T (p.Ser498Phe)	SEMA6A (S498F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260146	NM_020796.5(SEMA6A):c.2423C>T (p.Ser808Phe)	SEMA6A (S808F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260145	NM_020796.5(SEMA6A):c.2422T>C (p.Ser808Pro)	SEMA6A (S808P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257541	NM_020796.5(SEMA6A):c.3028G>A (p.Val1010Ile)	SEMA6A (V1027I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252186	NM_020796.5(SEMA6A):c.2791G>A (p.Ala931Thr)	SEMA6A (A931T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249021	NM_020796.5(SEMA6A):c.1466G>A (p.Gly489Asp)	SEMA6A (G489D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238163	NM_020796.5(SEMA6A):c.2489T>C (p.Val830Ala)	SEMA6A (V847A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224954	NM_020796.5(SEMA6A):c.1772C>T (p.Ser591Leu)	SEMA6A, SEMA6A-AS1 (S591L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212643	NM_020796.5(SEMA6A):c.163A>G (p.Arg55Gly)	SEMA6A (R55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527186	GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660)	AP3S1, APC +21 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 980738	GRCh37/hg19 5q23.1(chr5:115825267-115903172)x1	SEMA6A	Copy number loss	not provided	GUncertain significance
Select item 814732	GRCh37/hg19 5q23.1(chr5:115793539-116753906)x3	SEMA6A	Copy number gain	not provided	GUncertain significance
Select item 814731	GRCh37/hg19 5q23.1(chr5:115472743-116126058)x3	SEMA6A, COMMD10	Copy number gain	not provided	GUncertain significance
Select item 785134	NM_020796.5(SEMA6A):c.480C>T (p.Ser160=)	SEMA6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783392	NM_020796.5(SEMA6A):c.1623C>G (p.Ala541=)	SEMA6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780560	NM_020796.5(SEMA6A):c.465C>T (p.Phe155=)	SEMA6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745969	NM_020796.5(SEMA6A):c.270T>C (p.Tyr90=)	SEMA6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729098	NM_020796.5(SEMA6A):c.720A>G (p.Ala240=)	LOC126807485, SEMA6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724091	NM_020796.5(SEMA6A):c.219-3T>C	SEMA6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722892	NM_020796.5(SEMA6A):c.1613A>G (p.Glu538Gly)	SEMA6A (E538G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718147	NM_020796.5(SEMA6A):c.2909A>C (p.Gln970Pro)	SEMA6A (Q970P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 713698	NM_020796.5(SEMA6A):c.2672C>T (p.Pro891Leu)	SEMA6A (P908L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 712532	NM_020796.5(SEMA6A):c.2791G>C (p.Ala931Pro)	SEMA6A (A948P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 709225	NM_020796.5(SEMA6A):c.198A>G (p.Gly66=)	SEMA6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 545308	Single allele	AP3S1, ARL14EPL +88 more	Duplication	Autism	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2