KBTBD4[gene] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 145004	GRCh38/hg38 11p11.2(chr11:47568261-47595569)x3	C1QTNF4, FAM180B +5 more	Copy number gain	See cases	GBenign
Select item 3112970	NM_018095.6(KBTBD4):c.1517C>T (p.Thr506Ile)	KBTBD4, PTPMT1 (T490I +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3532032	NM_018095.6(KBTBD4):c.1468G>A (p.Gly490Arg)	KBTBD4, PTPMT1 (G490R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308799	NM_018095.6(KBTBD4):c.1433C>G (p.Ser478Cys)	KBTBD4, PTPMT1 (S462C +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2396111	NM_018095.6(KBTBD4):c.1372G>T (p.Val458Leu)	KBTBD4, PTPMT1 (V465L +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3532031	NM_018095.6(KBTBD4):c.1306G>A (p.Ala436Thr)	KBTBD4, PTPMT1 (A420T +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538772	NM_018095.6(KBTBD4):c.1292A>C (p.Tyr431Ser)	KBTBD4, PTPMT1 (Y438S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394727	NM_018095.6(KBTBD4):c.1206G>T (p.Glu402Asp)	KBTBD4, PTPMT1 (E409D +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2539391	NM_018095.6(KBTBD4):c.1180G>A (p.Gly394Arg)	KBTBD4, PTPMT1 (G394R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3532030	NM_018095.6(KBTBD4):c.1109G>T (p.Gly370Val)	KBTBD4, PTPMT1 (G393V +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3532028	NM_018095.6(KBTBD4):c.1105G>A (p.Val369Ile)	KBTBD4, PTPMT1 (V376I +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2289498	NM_018095.6(KBTBD4):c.1001G>A (p.Arg334Gln)	KBTBD4 (R341Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532033	NM_018095.6(KBTBD4):c.964G>A (p.Val322Ile)	KBTBD4 (V322I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532027	NM_018095.6(KBTBD4):c.956A>G (p.Asn319Ser)	KBTBD4 (N328S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112974	NM_018095.6(KBTBD4):c.875A>G (p.Gln292Arg)	KBTBD4 (Q299R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112973	NM_018095.6(KBTBD4):c.835G>A (p.Asp279Asn)	KBTBD4 (D286N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532026	NM_018095.6(KBTBD4):c.751G>A (p.Gly251Arg)	KBTBD4 (G274R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112972	NM_018095.6(KBTBD4):c.719C>T (p.Ala240Val)	KBTBD4 (A247V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610569	NM_018095.6(KBTBD4):c.701A>G (p.Glu234Gly)	KBTBD4 (E218G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211568	NM_018095.6(KBTBD4):c.647C>T (p.Pro216Leu)	KBTBD4 (P223L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553254	NM_018095.6(KBTBD4):c.629T>C (p.Ile210Thr)	KBTBD4 (I219T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287467	NM_018095.6(KBTBD4):c.613C>T (p.Arg205Cys)	KBTBD4 (R228C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553905	NM_018095.6(KBTBD4):c.536A>G (p.Tyr179Cys)	KBTBD4 (Y202C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518295	NM_018095.6(KBTBD4):c.514C>G (p.Arg172Gly)	KBTBD4 (R156G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210378	NM_018095.6(KBTBD4):c.467G>A (p.Arg156His)	KBTBD4 (R140H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287468	NM_018095.6(KBTBD4):c.455G>C (p.Arg152Pro)	KBTBD4 (R159P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112971	NM_018095.6(KBTBD4):c.419T>C (p.Met140Thr)	KBTBD4 (M140T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476380	NM_018095.6(KBTBD4):c.293A>G (p.His98Arg)	KBTBD4 (H107R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694637	NM_018095.6(KBTBD4):c.291C>T (p.Ala97=)	KBTBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370182	NM_018095.6(KBTBD4):c.260G>A (p.Arg87Gln)	KBTBD4 (R110Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259005	NM_018095.6(KBTBD4):c.219G>T (p.Gln73His)	KBTBD4 (Q80H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532029	NM_018095.6(KBTBD4):c.118C>T (p.Arg40Trp)	KBTBD4 (R47W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 683070	NM_004551.1(NDUFS3):c.-292A>G	KBTBD4, NDUFS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239179	NC_000011.10:g.47578886C>T	KBTBD4, NDUFS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2310345	NM_018095.6(KBTBD4):c.10G>C (p.Gly4Arg)	KBTBD4 (G4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 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: 46