BTBD2[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 3135418	NM_017797.4(BTBD2):c.1509C>T (p.Tyr503=)	BTBD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2510244	NM_017797.4(BTBD2):c.1420C>T (p.Pro474Ser)	BTBD2 (P474S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259438	NM_017797.4(BTBD2):c.1387G>A (p.Val463Ile)	BTBD2 (V463I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135417	NM_017797.4(BTBD2):c.1375G>A (p.Val459Met)	BTBD2 (V459M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135416	NM_017797.4(BTBD2):c.1351G>A (p.Val451Ile)	BTBD2 (V451I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135415	NM_017797.4(BTBD2):c.1348C>T (p.Arg450Cys)	BTBD2 (R450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286812	NM_017797.4(BTBD2):c.1337C>T (p.Ala446Val)	BTBD2 (A446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135414	NM_017797.4(BTBD2):c.1327G>A (p.Asp443Asn)	BTBD2 (D443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262006	NM_017797.4(BTBD2):c.1313C>T (p.Thr438Met)	BTBD2 (T438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262007	NM_017797.4(BTBD2):c.1207G>A (p.Val403Met)	BTBD2 (V403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135413	NM_017797.4(BTBD2):c.1088C>G (p.Pro363Arg)	BTBD2 (P363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135412	NM_017797.4(BTBD2):c.1085G>A (p.Arg362Gln)	BTBD2 (R362Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356914	NM_017797.4(BTBD2):c.1001C>T (p.Ser334Leu)	BTBD2 (S334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262009	NM_017797.4(BTBD2):c.923A>C (p.Lys308Thr)	BTBD2 (K308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495943	NM_017797.4(BTBD2):c.863G>A (p.Arg288His)	BTBD2 (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407672	NM_017797.4(BTBD2):c.841C>T (p.Arg281Trp)	BTBD2 (R281W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135423	NM_017797.4(BTBD2):c.833G>A (p.Arg278His)	BTBD2 (R278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364695	NM_017797.4(BTBD2):c.817G>A (p.Asp273Asn)	BTBD2 (D273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648954	NM_017797.4(BTBD2):c.753C>T (p.Asp251=)	BTBD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135422	NM_017797.4(BTBD2):c.738C>G (p.Asp246Glu)	BTBD2 (D246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135421	NM_017797.4(BTBD2):c.737A>G (p.Asp246Gly)	BTBD2 (D246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218568	NM_017797.4(BTBD2):c.670A>G (p.Met224Val)	BTBD2 (M224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359535	NM_017797.4(BTBD2):c.602C>T (p.Ala201Val)	BTBD2 (A201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135420	NM_017797.4(BTBD2):c.578C>A (p.Thr193Lys)	BTBD2 (T193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648955	NM_017797.4(BTBD2):c.507T>A (p.Ala169=)	BTBD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648956	NM_017797.4(BTBD2):c.432C>T (p.Ala144=)	BTBD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2296162	NM_017797.4(BTBD2):c.422T>C (p.Val141Ala)	BTBD2 (V141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648957	NM_017797.4(BTBD2):c.408-8C>T	BTBD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3262008	NM_017797.4(BTBD2):c.391C>T (p.Arg131Cys)	BTBD2, LOC130063009 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511311	NM_017797.4(BTBD2):c.343G>A (p.Val115Met)	BTBD2 (V115M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569142	NM_017797.4(BTBD2):c.301C>T (p.Pro101Ser)	BTBD2, LOC130063010 (P101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325145	NM_017797.4(BTBD2):c.273G>C (p.Glu91Asp)	BTBD2, LOC130063010 (E91D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547207	NM_017797.4(BTBD2):c.272A>T (p.Glu91Val)	BTBD2, LOC130063010 (E91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467343	NM_017797.4(BTBD2):c.268C>T (p.Arg90Cys)	BTBD2, LOC130063010 (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538633	NM_017797.4(BTBD2):c.253G>A (p.Ala85Thr)	BTBD2, LOC130063010 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135419	NM_017797.4(BTBD2):c.251G>C (p.Gly84Ala)	BTBD2, LOC130063010 (G84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246273	NM_017797.4(BTBD2):c.242C>T (p.Ala81Val)	BTBD2, LOC130063010 (A81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474648	NM_017797.4(BTBD2):c.236A>C (p.Glu79Ala)	BTBD2, LOC130063010 (E79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648958	NM_017797.4(BTBD2):c.195C>T (p.Pro65=)	BTBD2, LOC130063010	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3262010	NM_017797.4(BTBD2):c.185C>A (p.Pro62Gln)	BTBD2, LOC130063010 (P62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412276	NM_017797.4(BTBD2):c.172A>C (p.Thr58Pro)	BTBD2 (T58P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031343	NM_017797.4(BTBD2):c.124GCC[6] (p.Ala48_Ala54del)	BTBD2	Microsatellite	BTBD2-related disorder	GLikely benign
Select item 2515344	NM_017797.4(BTBD2):c.160G>T (p.Ala54Ser)	BTBD2 (A54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347761	NM_017797.4(BTBD2):c.110C>T (p.Ala37Val)	BTBD2 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254315	NM_017797.4(BTBD2):c.64A>T (p.Thr22Ser)	BTBD2 (T22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032698	NM_017797.4(BTBD2):c.25C>T (p.Arg9Cys)	BTBD2 (R9C)	Single nucleotide variant (missense variant)	BTBD2-related disorder	GLikely benign
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062376	GRCh37/hg19 19p13.3(chr19:1773489-2186237)x3	ABHD17A, ADAT3 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	C19orf25, CSNK1G2 +35 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1341199	GRCh37/hg19 19p13.3(chr19:1973753-2380699)x3	AMH, AP3D1 +14 more	Copy number gain	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 689194	GRCh37/hg19 19p13.3(chr19:1816218-2152190)x3	ABHD17A, ADAT3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686628	GRCh37/hg19 19p13.3(chr19:1772993-1990715)x1	ABHD17A, ADAT3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394313	GRCh37/hg19 19p13.3(chr19:1952590-2050814)x1	MKNK2, BTBD2 +1 more	Copy number loss	See cases	GBenign
Select item 253917	GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3	GADD45B, BTBD2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 221538	GRCh37/hg19 19p13.3(chr19:1997403-2076912)x3	BTBD2, MKNK2 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 81