SEZ6[gene] - ClinVar

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

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154383	GRCh38/hg38 17q11.2(chr17:28757283-29216419)x3	DHRS13, ERAL1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 3160733	NM_178860.5(SEZ6):c.2915T>C (p.Ile972Thr)	SEZ6 (I847T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391252	NM_178860.5(SEZ6):c.2893C>T (p.Arg965Cys)	SEZ6 (R840C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363702	NM_178860.5(SEZ6):c.2882G>A (p.Arg961His)	SEZ6 (R961H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226942	NM_178860.5(SEZ6):c.2881C>T (p.Arg961Cys)	SEZ6 (R836C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343886	NM_178860.5(SEZ6):c.2767G>A (p.Ala923Thr)	SEZ6 (A923T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598368	NM_178860.5(SEZ6):c.2761C>G (p.Leu921Val)	SEZ6 (L796V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243731	NM_178860.5(SEZ6):c.2716A>G (p.Ser906Gly)	SEZ6 (S781G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 788369	NM_178860.5(SEZ6):c.2661T>C (p.His887=)	SEZ6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785563	NM_178860.5(SEZ6):c.2561A>G (p.Gln854Arg)	SEZ6 (Q854R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2373571	NM_178860.5(SEZ6):c.2546G>A (p.Arg849Gln)	SEZ6 (R724Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160731	NM_178860.5(SEZ6):c.2492T>G (p.Leu831Arg)	SEZ6 (L706R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239461	NM_178860.5(SEZ6):c.2417T>C (p.Met806Thr)	SEZ6 (M681T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2321628	NM_178860.5(SEZ6):c.2357G>A (p.Ser786Asn)	SEZ6 (S661N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160730	NM_178860.5(SEZ6):c.2342G>A (p.Arg781Gln)	SEZ6 (R781Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294563	NM_178860.5(SEZ6):c.2303-10del	SEZ6	Deletion (intron variant)	not provided	GBenign
Select item 2536912	NM_178860.5(SEZ6):c.2283C>A (p.Asp761Glu)	SEZ6 (D636E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538621	NM_178860.5(SEZ6):c.2265C>G (p.Asp755Glu)	SEZ6 (D630E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390399	NM_178860.5(SEZ6):c.2132C>T (p.Pro711Leu)	SEZ6 (P711L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264998	NM_178860.5(SEZ6):c.2117G>A (p.Arg706His)	SEZ6 (R581H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160728	NM_178860.5(SEZ6):c.2116C>T (p.Arg706Cys)	SEZ6 (R706C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 995974	NM_178860.5(SEZ6):c.2092G>A (p.Val698Ile)	SEZ6 (V573I +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic hearing impairment	GUncertain significance
Select item 768863	NM_178860.5(SEZ6):c.1997G>A (p.Arg666His)	SEZ6 (R666H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3160727	NM_178860.5(SEZ6):c.1907G>A (p.Arg636Gln)	SEZ6 (R636Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790331	NM_178860.5(SEZ6):c.1840G>A (p.Gly614Ser)	SEZ6 (G489S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785564	NM_178860.5(SEZ6):c.1800G>A (p.Ser600=)	SEZ6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740755	NM_178860.5(SEZ6):c.1734C>G (p.His578Gln)	SEZ6 (H453Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2263466	NM_178860.5(SEZ6):c.1714A>G (p.Ile572Val)	SEZ6 (I572V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160726	NM_178860.5(SEZ6):c.1678G>A (p.Asp560Asn)	SEZ6 (D560N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258866	NM_178860.5(SEZ6):c.1484T>C (p.Ile495Thr)	SEZ6 (I370T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305785	NM_178860.5(SEZ6):c.1285G>A (p.Val429Ile)	SEZ6 (V304I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549277	NM_178860.5(SEZ6):c.1283T>C (p.Ile428Thr)	SEZ6 (I303T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160725	NM_178860.5(SEZ6):c.1267G>A (p.Ala423Thr)	SEZ6 (A298T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388980	NM_178860.5(SEZ6):c.1262G>A (p.Arg421His)	SEZ6 (R296H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720885	NM_178860.5(SEZ6):c.1231G>A (p.Val411Ile)	SEZ6 (V411I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783776	NM_178860.5(SEZ6):c.1174G>A (p.Ala392Thr)	SEZ6 (A267T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2391235	NM_178860.5(SEZ6):c.1139G>A (p.Arg380His)	SEZ6 (R255H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489476	NM_178860.5(SEZ6):c.1004A>G (p.Gln335Arg)	SEZ6 (Q210R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352143	NM_178860.5(SEZ6):c.956G>A (p.Arg319Gln)	SEZ6 (R194Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160736	NM_178860.5(SEZ6):c.932T>G (p.Leu311Arg)	SEZ6 (L186R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374990	NM_178860.5(SEZ6):c.911G>T (p.Gly304Val)	SEZ6 (G304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464500	NM_178860.5(SEZ6):c.890C>T (p.Thr297Ile)	SEZ6 (T172I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459016	NM_178860.5(SEZ6):c.878G>A (p.Arg293Gln)	SEZ6 (R293Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 797757	NM_178860.5(SEZ6):c.786C>T (p.Ser262=)	SEZ6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204076	NM_178860.5(SEZ6):c.686C>G (p.Thr229Ser)	SEZ6 (T104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208383	NM_178860.5(SEZ6):c.678_686del (p.Thr227_Thr229del)	SEZ6	Deletion (inframe_deletion)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 2248188	NM_178860.5(SEZ6):c.656G>A (p.Gly219Glu)	SEZ6 (G219E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783777	NM_178860.5(SEZ6):c.610G>A (p.Ala204Thr)	SEZ6 (A79T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2297129	NM_178860.5(SEZ6):c.572T>C (p.Met191Thr)	SEZ6 (M191T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345072	NM_178860.5(SEZ6):c.484G>A (p.Ala162Thr)	SEZ6 (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591310	NM_178860.5(SEZ6):c.346C>T (p.Arg116Cys)	SEZ6 (R116C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160734	NM_178860.5(SEZ6):c.320T>G (p.Leu107Arg)	SEZ6 (L107R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160729	NM_178860.5(SEZ6):c.226T>G (p.Phe76Val)	SEZ6 (F76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604886	NM_178860.5(SEZ6):c.181G>T (p.Ala61Ser)	SEZ6 (A61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243404	NM_178860.5(SEZ6):c.158G>A (p.Arg53Gln)	SEZ6 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787598	NM_178860.5(SEZ6):c.142C>A (p.Pro48Thr)	SEZ6 (P48T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2491801	NM_178860.5(SEZ6):c.118G>A (p.Gly40Ser)	SEZ6 (G40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160735	NM_178860.5(SEZ6):c.79G>A (p.Val27Met)	SEZ6 (V27M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2241652	NM_178860.5(SEZ6):c.67G>A (p.Glu23Lys)	SEZ6 (E23K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063501	GRCh37/hg19 17q11.2(chr17:27281652-27333511)x3	SEZ6	Copy number gain	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	RAB34, RPL23A +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 687499	GRCh37/hg19 17q11.2(chr17:27281652-27339192)x3	SEZ6	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 72