BTBD18[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance
Select item 3135398	NM_001145101.3(BTBD18):c.2078T>C (p.Val693Ala)	BTBD18, TMX2-CTNND1 (V693A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528875	NM_001145101.3(BTBD18):c.1987G>C (p.Glu663Gln)	BTBD18, TMX2-CTNND1 (E663Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261999	NM_001145101.3(BTBD18):c.1856C>A (p.Pro619His)	BTBD18, TMX2-CTNND1 (P619H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209415	NM_001145101.3(BTBD18):c.1793C>G (p.Thr598Ser)	BTBD18, TMX2-CTNND1 (T598S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357269	NM_001145101.3(BTBD18):c.1769G>A (p.Arg590His)	BTBD18, TMX2-CTNND1 (R590H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330825	NM_001145101.3(BTBD18):c.1690G>A (p.Glu564Lys)	BTBD18, TMX2-CTNND1 (E564K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540045	NM_001145101.3(BTBD18):c.1571C>T (p.Thr524Met)	BTBD18, TMX2-CTNND1 (T524M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135397	NM_001145101.3(BTBD18):c.1561G>C (p.Gly521Arg)	BTBD18, TMX2-CTNND1 (G521R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330680	NM_001145101.3(BTBD18):c.1552G>A (p.Gly518Arg)	BTBD18, TMX2-CTNND1 (G518R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3262000	NM_001145101.3(BTBD18):c.1538C>T (p.Ser513Phe)	BTBD18, TMX2-CTNND1 (S513F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600299	NM_001145101.3(BTBD18):c.1430C>T (p.Pro477Leu)	BTBD18, TMX2-CTNND1 (P477L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535933	NM_001145101.3(BTBD18):c.1382T>C (p.Ile461Thr)	BTBD18, TMX2-CTNND1 (I461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211467	NM_001145101.3(BTBD18):c.1351G>C (p.Glu451Gln)	BTBD18, TMX2-CTNND1 (E451Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262003	NM_001145101.3(BTBD18):c.1349C>T (p.Pro450Leu)	BTBD18, TMX2-CTNND1 (P450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135396	NM_001145101.3(BTBD18):c.1285A>G (p.Ile429Val)	BTBD18, TMX2-CTNND1 (I429V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135395	NM_001145101.3(BTBD18):c.1265T>C (p.Met422Thr)	BTBD18, TMX2-CTNND1 (M422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135394	NM_001145101.3(BTBD18):c.1192G>A (p.Gly398Arg)	BTBD18, TMX2-CTNND1 (G398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248116	NM_001145101.3(BTBD18):c.1141C>G (p.Gln381Glu)	BTBD18, TMX2-CTNND1 (Q381E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261997	NM_001145101.3(BTBD18):c.1133A>G (p.Lys378Arg)	BTBD18, TMX2-CTNND1 (K378R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471047	NM_001145101.3(BTBD18):c.1013G>A (p.Arg338Gln)	BTBD18, TMX2-CTNND1 (R338Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487500	NM_001145101.3(BTBD18):c.929A>G (p.Asp310Gly)	BTBD18, TMX2-CTNND1 (D310G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370996	NM_001145101.3(BTBD18):c.913A>G (p.Lys305Glu)	BTBD18, TMX2-CTNND1 (K305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135403	NM_001145101.3(BTBD18):c.884G>A (p.Arg295Gln)	BTBD18, TMX2-CTNND1 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261998	NM_001145101.3(BTBD18):c.883C>T (p.Arg295Trp)	BTBD18, TMX2-CTNND1 (R295W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135402	NM_001145101.3(BTBD18):c.871G>A (p.Ala291Thr)	BTBD18, TMX2-CTNND1 (A291T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303553	NM_001145101.3(BTBD18):c.850A>G (p.Ser284Gly)	BTBD18, TMX2-CTNND1 (S284G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527547	NM_001145101.3(BTBD18):c.452C>T (p.Pro151Leu)	BTBD18, TMX2-CTNND1 (P151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135401	NM_001145101.3(BTBD18):c.395A>G (p.Lys132Arg)	BTBD18, TMX2-CTNND1 (K132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135400	NM_001145101.3(BTBD18):c.298G>C (p.Val100Leu)	BTBD18, TMX2-CTNND1 (V100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278926	NM_001145101.3(BTBD18):c.290A>C (p.Glu97Ala)	BTBD18, TMX2-CTNND1 (E97A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262002	NM_001145101.3(BTBD18):c.229G>C (p.Glu77Gln)	BTBD18, TMX2-CTNND1 (E77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135399	NM_001145101.3(BTBD18):c.211G>A (p.Gly71Ser)	BTBD18, TMX2-CTNND1 (G71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364308	NM_001145101.3(BTBD18):c.194G>A (p.Arg65Gln)	BTBD18, TMX2-CTNND1 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262001	NM_001145101.3(BTBD18):c.193C>T (p.Arg65Trp)	BTBD18, TMX2-CTNND1 (R65W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590888	NM_001145101.3(BTBD18):c.89G>A (p.Ser30Asn)	BTBD18, TMX2-CTNND1 (S30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261996	NM_001145101.3(BTBD18):c.44G>A (p.Arg15Gln)	BTBD18, TMX2-CTNND1 (R15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616891	NM_001145101.3(BTBD18):c.43C>T (p.Arg15Trp)	BTBD18, TMX2-CTNND1 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338459	GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3	APLNR, BTBD18 +20 more	Copy number gain	Pontocerebellar hypoplasia type 10	GLikely pathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
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 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 1074254	NC_000011.9:g.(?_57471510)_(57564464_?)del	BTBD18, CTNND1 +3 more	Deletion	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
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

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Items: 52