ClinVar for Gene (Select 55709) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3112970	NM_018095.6(KBTBD4):c.1517C>T (p.Thr506Ile)	KBTBD4, PTPMT1 (T490I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 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 2539391	NM_018095.6(KBTBD4):c.1180G>A (p.Gly394Arg)	KBTBD4, PTPMT1 (G394R +5 more)	Single nucleotide variant (non-coding transcript 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 (non-coding transcript variant +1 more)	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 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 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 2396111	NM_018095.6(KBTBD4):c.1372G>T (p.Val458Leu)	KBTBD4, PTPMT1 (V465L +5 more)	Single nucleotide variant (non-coding transcript 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 (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 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 2308799	NM_018095.6(KBTBD4):c.1433C>G (p.Ser478Cys)	KBTBD4, PTPMT1 (S462C +5 more)	Single nucleotide variant (non-coding transcript 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 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 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 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 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1694637	NM_018095.6(KBTBD4):c.291C>T (p.Ala97=)	KBTBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1239179	NM_018095.6(KBTBD4):c.19+47G>A	KBTBD4, NDUFS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	F2, FAM180B +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 683070	NM_018095.6(KBTBD4):c.19+133T>C	KBTBD4, NDUFS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +258 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 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 36