BTBD9[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 148108	GRCh38/hg38 6p21.2(chr6:38081809-38634288)x1	BTBD9, BTBD9-AS1 +3 more	Copy number loss	See cases	GBenign
Select item 2403269	NM_001099272.2(BTBD9):c.1805C>G (p.Ser602Cys)	BTBD9 (S534C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395797	NM_001099272.2(BTBD9):c.1769C>T (p.Ala590Val)	BTBD9 (A590V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370605	NM_001099272.2(BTBD9):c.1688A>T (p.Gln563Leu)	BTBD9 (Q533L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367429	NM_001099272.2(BTBD9):c.1609C>T (p.Arg537Cys)	BTBD9 (R469C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216466	NM_001099272.2(BTBD9):c.1531A>G (p.Met511Val)	BTBD9 (M481V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510773	NM_001099272.2(BTBD9):c.1498G>A (p.Val500Ile)	BTBD9 (V470I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253207	NM_001099272.2(BTBD9):c.1426G>A (p.Ala476Thr)	BTBD9 (A408T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523390	NM_001099272.2(BTBD9):c.1288A>G (p.Ile430Val)	BTBD9 (I400V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352233	NM_001099272.2(BTBD9):c.1274A>C (p.Glu425Ala)	BTBD9 (E357A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235102	NM_001099272.2(BTBD9):c.1234A>C (p.Lys412Gln)	BTBD9 (K344Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348543	NM_001099272.2(BTBD9):c.1145G>A (p.Arg382His)	BTBD9 (R314H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737264	NM_001099272.2(BTBD9):c.1092A>C (p.Ile364=)	BTBD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2210516	NM_001099272.2(BTBD9):c.1078T>A (p.Trp360Arg)	BTBD9 (W292R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360703	NM_001099272.2(BTBD9):c.1063A>G (p.Met355Val)	BTBD9 (M287V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529350	NM_001099272.2(BTBD9):c.1055A>T (p.Glu352Val)	BTBD9 (E284V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135459	NM_001099272.2(BTBD9):c.1025G>A (p.Arg342Gln)	BTBD9 (R274Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546060	NM_001099272.2(BTBD9):c.1005A>G (p.Ile335Met)	BTBD9 (I267M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135463	NM_001099272.2(BTBD9):c.961G>A (p.Gly321Ser)	BTBD9 (G253S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135462	NM_001099272.2(BTBD9):c.956G>A (p.Arg319His)	BTBD9 (R260H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493198	NM_001099272.2(BTBD9):c.734T>G (p.Leu245Arg)	BTBD9 (L177R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787827	NM_001099272.2(BTBD9):c.717G>A (p.Val239=)	BTBD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2273889	NM_001099272.2(BTBD9):c.595G>A (p.Glu199Lys)	BTBD9 (E131K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522352	NM_001099272.2(BTBD9):c.485G>T (p.Cys162Phe)	BTBD9 (C162F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223767	NM_001099272.2(BTBD9):c.470T>C (p.Leu157Ser)	BTBD9 (L89S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223766	NM_001099272.2(BTBD9):c.469T>A (p.Leu157Ile)	BTBD9 (L98I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376939	NM_001099272.2(BTBD9):c.316A>G (p.Lys106Glu)	BTBD9 (K38E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382127	NM_001099272.2(BTBD9):c.302C>T (p.Thr101Met)	BTBD9 (T42M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364026	NM_001099272.2(BTBD9):c.296G>A (p.Arg99Gln)	BTBD9 (R40Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135460	NM_001099272.2(BTBD9):c.295C>T (p.Arg99Trp)	BTBD9 (R99W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323477	NM_001099272.2(BTBD9):c.251C>T (p.Thr84Ile)	BTBD9 (T25I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614848	NM_001099272.2(BTBD9):c.242A>G (p.Gln81Arg)	BTBD9 (Q13R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253877	NM_001099272.2(BTBD9):c.227C>T (p.Ala76Val)	BTBD9 (A17V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460152	NM_001099272.2(BTBD9):c.112G>A (p.Val38Ile)	BTBD9 (V38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062923	GRCh37/hg19 6p21.2(chr6:38287197-38317185)x1	BTBD9	Copy number loss	not specified	GUncertain significance
Select item 3062895	GRCh37/hg19 6p21.2(chr6:37160048-38287691)x3	BTBD9, CCDC167 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 1809398	GRCh37/hg19 6p21.2(chr6:38454829-38581039)x1	BTBD9	Copy number loss	not provided	GUncertain significance
Select item 1340999	GRCh37/hg19 6p21.2(chr6:37485973-38275476)x3	BTBD9, MDGA1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 687203	GRCh37/hg19 6p21.2(chr6:38382510-38658257)x3	BTBD9, GLO1	Copy number gain	not provided	GUncertain significance
Select item 686421	GRCh37/hg19 6p21.2(chr6:38140596-38324813)x1	BTBD9	Copy number loss	not provided	GUncertain significance
Select item 686325	GRCh37/hg19 6p21.2(chr6:38174820-38605375)x1	BTBD9	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563174	GRCh37/hg19 6p21.2(chr6:38454828-38581039)x1	BTBD9	Copy number loss	not provided	GUncertain significance
Select item 562233	Single allele	BTBD9	Deletion	Intellectual disability, mild	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 50