KBTBD12[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 549586	NC_000003.12:g.127814446_127916946dup	KBTBD12, LOC126806805 +3 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 152304	GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3	EEFSEC, KBTBD12 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2271625	NM_207335.4(KBTBD12):c.82G>A (p.Ala28Thr)	KBTBD12 (A28T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292484	NM_207335.4(KBTBD12):c.97G>A (p.Val33Met)	KBTBD12 (V33M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613221	NM_207335.4(KBTBD12):c.438A>C (p.Glu146Asp)	KBTBD12 (E146D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207375	NM_207335.4(KBTBD12):c.539T>A (p.Leu180His)	KBTBD12 (L180H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266686	NM_207335.4(KBTBD12):c.625C>T (p.Arg209Cys)	KBTBD12 (R209C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623347	NM_207335.4(KBTBD12):c.677A>C (p.Asn226Thr)	KBTBD12 (N226T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460574	NM_207335.4(KBTBD12):c.734A>T (p.Asp245Val)	KBTBD12 (D245V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241400	NM_207335.4(KBTBD12):c.745A>G (p.Ile249Val)	KBTBD12 (I249V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210052	NM_207335.4(KBTBD12):c.973A>C (p.Thr325Pro)	KBTBD12 (T325P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558768	NM_207335.4(KBTBD12):c.995A>C (p.Asn332Thr)	KBTBD12 (N332T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543270	NM_207335.4(KBTBD12):c.1158C>A (p.Asp386Glu)	KBTBD12 (D386E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547945	NM_207335.4(KBTBD12):c.1163A>G (p.Tyr388Cys)	KBTBD12 (Y388C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254683	NM_207335.4(KBTBD12):c.1295T>C (p.Val432Ala)	KBTBD12 (V432A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384396	NM_207335.4(KBTBD12):c.1349T>C (p.Leu450Pro)	KBTBD12 (L450P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259937	NM_207335.4(KBTBD12):c.1370G>A (p.Arg457Gln)	KBTBD12 (R457Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454730	NM_207335.4(KBTBD12):c.1376G>A (p.Ser459Asn)	KBTBD12 (S459N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311404	NM_207335.4(KBTBD12):c.1389G>T (p.Leu463Phe)	KBTBD12 (L463F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292215	NM_207335.4(KBTBD12):c.1393T>C (p.Tyr465His)	KBTBD12 (Y465H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568416	NM_207335.4(KBTBD12):c.1398C>A (p.Asp466Glu)	KBTBD12 (D466E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291777	NM_207335.4(KBTBD12):c.1424G>A (p.Arg475Gln)	KBTBD12 (R475Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275892	NM_207335.4(KBTBD12):c.1451G>A (p.Arg484Gln)	KBTBD12 (R484Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409275	NM_207335.4(KBTBD12):c.1529T>C (p.Val510Ala)	KBTBD12 (V510A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220490	NM_207335.4(KBTBD12):c.1621C>T (p.Arg541Cys)	KBTBD12 (R541C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367399	NM_207335.4(KBTBD12):c.1622G>A (p.Arg541His)	KBTBD12 (R541H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382646	NM_207335.4(KBTBD12):c.1624A>G (p.Thr542Ala)	KBTBD12 (T542A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288818	NM_207335.4(KBTBD12):c.1651G>A (p.Asp551Asn)	KBTBD12 (D551N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282412	NM_207335.4(KBTBD12):c.1697A>G (p.His566Arg)	KBTBD12 (H566R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588290	NM_207335.4(KBTBD12):c.1712A>G (p.Lys571Arg)	KBTBD12 (K571R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486275	NM_207335.4(KBTBD12):c.1777C>T (p.His593Tyr)	KBTBD12 (H593Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248463	NM_207335.4(KBTBD12):c.1819C>G (p.Arg607Gly)	KBTBD12 (R607G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382468	NM_207335.4(KBTBD12):c.1820G>A (p.Arg607Gln)	KBTBD12 (R607Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425851	NC_000003.11:g.(?_126707437)_(127783900_?)del	PRR23E, MGLL +7 more	Deletion	not provided	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807856	GRCh37/hg19 3q21.3(chr3:127540292-128170755)x3	EEFSEC, KBTBD12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527041	GRCh37/hg19 3q21.3(chr3:127530506-128170426)	EEFSEC, KBTBD12 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 689158	GRCh37/hg19 3q21.3(chr3:127538025-128174439)x3	EEFSEC, KBTBD12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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
Select item 395357	GRCh37/hg19 3q21.3(chr3:127521474-128075630)x3	EEFSEC, KBTBD12 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 51