BTBD10[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 3135365	NM_032320.7(BTBD10):c.1336A>G (p.Thr446Ala)	BTBD10 (T446A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135371	NM_032320.7(BTBD10):c.983A>G (p.Gln328Arg)	BTBD10 (Q328R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393793	NM_032320.7(BTBD10):c.713G>A (p.Arg238His)	BTBD10 (R238H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265403	NM_032320.7(BTBD10):c.712C>T (p.Arg238Cys)	BTBD10 (R190C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544067	NM_032320.7(BTBD10):c.574A>G (p.Met192Val)	BTBD10 (M144V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135370	NM_032320.7(BTBD10):c.521A>T (p.Asp174Val)	BTBD10 (D174V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281272	NM_032320.7(BTBD10):c.509C>T (p.Thr170Ile)	BTBD10 (T122I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219886	NM_032320.7(BTBD10):c.494C>T (p.Thr165Met)	BTBD10 (T117M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517604	NM_032320.7(BTBD10):c.488T>A (p.Ile163Lys)	BTBD10 (I171K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135369	NM_032320.7(BTBD10):c.388A>C (p.Ser130Arg)	BTBD10 (S130R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263780	NM_032320.7(BTBD10):c.290A>G (p.His97Arg)	BTBD10 (H105R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135368	NM_032320.7(BTBD10):c.281C>G (p.Thr94Arg)	BTBD10 (T102R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135366	NM_032320.7(BTBD10):c.134A>G (p.Asp45Gly)	BTBD10 (D45G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2382508	NM_032320.7(BTBD10):c.58C>T (p.Arg20Trp)	BTBD10 (R20W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135367	NM_032320.7(BTBD10):c.22T>G (p.Tyr8Asp)	BTBD10 (Y8D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221311	NM_032320.7(BTBD10):c.14C>T (p.Pro5Leu)	BTBD10 (P5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684637	GRCh37/hg19 11p15.2(chr11:13446803-13696943)x3	BTBD10, FAR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 686408	GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4	SPON1, PTH +6 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563817	GRCh37/hg19 11p15.2(chr11:13337750-13457670)x1	BTBD10, ARNTL	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	CCDC34, CCKBR +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	CDHR5, CDKN1C +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	DNAJC24, DNHD1 +364 more	Copy number gain	See cases	GPathogenic

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Items: 31