BTBD7[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 2235920	NM_001002860.4(BTBD7):c.3282T>G (p.Ser1094Arg)	BTBD7 (S743R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299585	NM_001002860.4(BTBD7):c.3279C>A (p.Asp1093Glu)	BTBD7 (D1093E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232074	NM_001002860.4(BTBD7):c.3262G>A (p.Gly1088Ser)	BTBD7 (G1088S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518781	NM_001002860.4(BTBD7):c.3226T>C (p.Ser1076Pro)	BTBD7 (S1076P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400820	NM_001002860.4(BTBD7):c.3208C>T (p.Pro1070Ser)	BTBD7 (P719S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513169	NM_001002860.4(BTBD7):c.3185C>G (p.Thr1062Ser)	BTBD7 (T1062S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247661	NM_001002860.4(BTBD7):c.3107G>A (p.Arg1036Gln)	BTBD7 (R685Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135450	NM_001002860.4(BTBD7):c.3076C>T (p.His1026Tyr)	BTBD7 (H1026Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324914	NM_001002860.4(BTBD7):c.3047A>G (p.His1016Arg)	BTBD7 (H1016R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278723	NM_001002860.4(BTBD7):c.3042C>A (p.Asp1014Glu)	BTBD7 (D663E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135449	NM_001002860.4(BTBD7):c.2947G>C (p.Ala983Pro)	BTBD7 (A632P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249578	NM_001002860.4(BTBD7):c.2924C>T (p.Pro975Leu)	BTBD7 (P975L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480512	NM_001002860.4(BTBD7):c.2882G>T (p.Ser961Ile)	BTBD7 (S961I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490923	NM_001002860.4(BTBD7):c.2860A>G (p.Arg954Gly)	BTBD7 (R954G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392816	NM_001002860.4(BTBD7):c.2848A>G (p.Asn950Asp)	BTBD7 (N950D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135447	NM_001002860.4(BTBD7):c.2844C>A (p.Phe948Leu)	BTBD7 (F948L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219540	NM_001002860.4(BTBD7):c.2771G>A (p.Arg924Gln)	BTBD7 (R573Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400360	NM_001002860.4(BTBD7):c.2738C>T (p.Ser913Leu)	BTBD7 (S913L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342641	NM_001002860.4(BTBD7):c.2707G>C (p.Glu903Gln)	BTBD7 (E903Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246105	NM_001002860.4(BTBD7):c.2662C>T (p.Leu888Phe)	BTBD7 (L537F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522365	NM_001002860.4(BTBD7):c.2623G>A (p.Ala875Thr)	BTBD7 (A524T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258960	NM_001002860.4(BTBD7):c.2585G>A (p.Arg862Gln)	BTBD7 (R862Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531946	NM_001002860.4(BTBD7):c.2531C>T (p.Thr844Ile)	BTBD7 (T493I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490758	NM_001002860.4(BTBD7):c.2483C>T (p.Thr828Ile)	BTBD7 (T477I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135445	NM_001002860.4(BTBD7):c.2437C>T (p.Pro813Ser)	BTBD7 (P462S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135444	NM_001002860.4(BTBD7):c.2392A>G (p.Asn798Asp)	BTBD7 (N798D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135443	NM_001002860.4(BTBD7):c.2322C>A (p.Asn774Lys)	BTBD7 (N423K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458657	NM_001002860.4(BTBD7):c.2189C>T (p.Pro730Leu)	BTBD7 (P730L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242821	NM_001002860.4(BTBD7):c.2186A>T (p.Gln729Leu)	BTBD7 (Q729L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402435	NM_001002860.4(BTBD7):c.2122-13del	BTBD7	Deletion (intron variant)	not specified	GBenign
Select item 3135442	NM_001002860.4(BTBD7):c.2057A>G (p.Tyr686Cys)	BTBD7 (Y686C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292831	NM_001002860.4(BTBD7):c.2000C>T (p.Thr667Met)	BTBD7 (T316M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465325	NM_001002860.4(BTBD7):c.1993C>T (p.Arg665Trp)	BTBD7 (R314W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249857	NM_001002860.4(BTBD7):c.1949G>A (p.Arg650His)	BTBD7 (R650H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135441	NM_001002860.4(BTBD7):c.1855G>A (p.Val619Met)	BTBD7 (V268M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347869	NM_001002860.4(BTBD7):c.1789C>T (p.Leu597Phe)	BTBD7 (L246F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359553	NM_001002860.4(BTBD7):c.1714C>T (p.Arg572Cys)	BTBD7 (R572C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468492	NM_001002860.4(BTBD7):c.1687C>T (p.Arg563Trp)	BTBD7 (R212W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530199	NM_001002860.4(BTBD7):c.1654A>G (p.Thr552Ala)	BTBD7 (T201A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622119	NM_001002860.4(BTBD7):c.1592A>G (p.Glu531Gly)	BTBD7 (E531G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374554	NM_001002860.4(BTBD7):c.1505G>A (p.Arg502Gln)	BTBD7 (R151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135440	NM_001002860.4(BTBD7):c.1463G>A (p.Ser488Asn)	BTBD7 (S488N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135439	NM_001002860.4(BTBD7):c.1428G>T (p.Met476Ile)	BTBD7 (M125I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260979	NM_001002860.4(BTBD7):c.1427T>C (p.Met476Thr)	BTBD7 (M125T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463348	NM_001002860.4(BTBD7):c.1079G>A (p.Gly360Glu)	BTBD7 (G360E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359608	NM_001002860.4(BTBD7):c.1075G>T (p.Ala359Ser)	BTBD7 (A359S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231868	NM_001002860.4(BTBD7):c.1072G>A (p.Val358Ile)	BTBD7 (V358I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376327	NM_001002860.4(BTBD7):c.748G>A (p.Val250Ile)	BTBD7 (V250I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135453	NM_001002860.4(BTBD7):c.730A>C (p.Met244Leu)	BTBD7 (M244L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559482	NM_001002860.4(BTBD7):c.711G>A (p.Met237Ile)	BTBD7 (M237I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554037	NM_001002860.4(BTBD7):c.666G>T (p.Gln222His)	BTBD7 (Q222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243835	NM_001002860.4(BTBD7):c.631G>A (p.Asp211Asn)	BTBD7 (D211N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624393	NM_001002860.4(BTBD7):c.472G>A (p.Ala158Thr)	BTBD7 (A158T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135452	NM_001002860.4(BTBD7):c.430G>A (p.Val144Ile)	BTBD7 (V144I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254493	NM_001002860.4(BTBD7):c.388A>G (p.Lys130Glu)	BTBD7 (K130E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135438	NM_001002860.4(BTBD7):c.110A>G (p.Tyr37Cys)	BTBD7 (Y37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135437	NM_001002860.4(BTBD7):c.100C>G (p.Gln34Glu)	BTBD7 (Q34E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537910	NM_001002860.4(BTBD7):c.69A>C (p.Gln23His)	BTBD7 (Q23H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607210	NM_001002860.4(BTBD7):c.35G>A (p.Cys12Tyr)	BTBD7 (C12Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	SERPINA6, SERPINA9 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 442462	GRCh37/hg19 14q32.12(chr14:93710666-93935402)x1	BTBD7, COX8C +1 more	Copy number loss	See cases	GLikely benign
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 85