SEZ6[gene] - ClinVar

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Items: 80

	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 3317781	NM_178860.5(SEZ6):c.2888G>A (p.Arg963His)	SEZ6 (R838H +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 3317785	NM_178860.5(SEZ6):c.2740G>A (p.Ala914Thr)	SEZ6 (A914T +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 3317787	NM_178860.5(SEZ6):c.2550T>A (p.Ser850Arg)	SEZ6 (S850R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3317783	NM_178860.5(SEZ6):c.2359C>A (p.Pro787Thr)	SEZ6 (P662T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3317782	NM_178860.5(SEZ6):c.1996C>T (p.Arg666Cys)	SEZ6 (R666C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3317786	NM_178860.5(SEZ6):c.1567C>T (p.Arg523Cys)	SEZ6 (R398C +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 3317779	NM_178860.5(SEZ6):c.425C>T (p.Pro142Leu)	SEZ6 (P142L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3317780	NM_178860.5(SEZ6):c.52C>A (p.His18Asn)	SEZ6 (H18N)	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	ALDOC, BLTP2 +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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 80