ClinVar for Gene (Select 90135) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262018	NM_001387567.1(BTBD6):c.1403C>A (p.Pro468Gln)	BRF1, BTBD6 (P468Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262017	NM_001387567.1(BTBD6):c.335G>A (p.Ser112Asn)	BRF1, BTBD6 (S112N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262016	NM_001387567.1(BTBD6):c.1520G>A (p.Cys507Tyr)	BRF1, BTBD6 (C507Y +1 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3234247	NM_001387567.1(BTBD6):c.1452G>A (p.Thr484=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3148870	GRCh37/hg19 14q32.33(chr14:105516659-107284437)x3	BRF1, BTBD6 +22 more	Copy number gain	See cases	GUncertain significance
Select item 3135436	NM_001387567.1(BTBD6):c.1124G>A (p.Arg375His)	BRF1, BTBD6 (R375H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135435	NM_001387567.1(BTBD6):c.1123C>T (p.Arg375Cys)	BRF1, BTBD6 (R375C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135434	NM_001387567.1(BTBD6):c.1018A>C (p.Thr340Pro)	BRF1, BTBD6 (T340P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135433	NM_001387567.1(BTBD6):c.166G>A (p.Ala56Thr)	BRF1, BTBD6 (A56T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135432	NM_001387567.1(BTBD6):c.837G>T (p.Glu279Asp)	BRF1, BTBD6 (E226D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135431	NM_001387567.1(BTBD6):c.179C>G (p.Ala60Gly)	BRF1, BTBD6 (A7G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135430	NM_001387567.1(BTBD6):c.295G>C (p.Ala99Pro)	BRF1, BTBD6 (A99P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135429	NM_001387567.1(BTBD6):c.1451C>T (p.Thr484Met)	BRF1, BTBD6 (T431M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135428	NM_001387567.1(BTBD6):c.1444T>C (p.Phe482Leu)	BRF1, BTBD6 (F429L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135427	NM_001387567.1(BTBD6):c.1222G>A (p.Gly408Arg)	BRF1, BTBD6 (G355R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	CDCA4, IGHA2 +32 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644913	NM_001387567.1(BTBD6):c.1462G>A (p.Val488Ile)	BRF1, BTBD6 (V435I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2644912	NM_001387567.1(BTBD6):c.1182C>T (p.Phe394=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2644911	NM_001387567.1(BTBD6):c.933G>A (p.Ala311=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644910	NM_001387567.1(BTBD6):c.618C>G (p.Ala206=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2600107	NM_001387567.1(BTBD6):c.683G>A (p.Cys228Tyr)	BRF1, BTBD6 (C175Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2555231	NM_001387567.1(BTBD6):c.1184A>C (p.Gln395Pro)	BRF1, BTBD6 (Q342P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532961	NM_001387567.1(BTBD6):c.1410G>C (p.Trp470Cys)	BRF1, BTBD6 (W470C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520782	NM_001387567.1(BTBD6):c.1159G>A (p.Ala387Thr)	BRF1, BTBD6 (A334T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508290	NM_001387567.1(BTBD6):c.892G>A (p.Glu298Lys)	BRF1, BTBD6 (E245K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491307	NM_001387567.1(BTBD6):c.1156C>T (p.Leu386Phe)	BRF1, BTBD6 (L386F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480002	NM_001387567.1(BTBD6):c.547C>T (p.Pro183Ser)	BRF1, BTBD6 (P130S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455180	NM_001387567.1(BTBD6):c.972C>G (p.Asn324Lys)	BRF1, BTBD6 (N271K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426765	NC_000014.8:g.(?_105167703)_(105861009_?)del	ADSS1, AHNAK2 +14 more	Deletion	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2358138	NM_001387567.1(BTBD6):c.271C>T (p.Pro91Ser)	BRF1, BTBD6 (P38S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349412	NM_001387567.1(BTBD6):c.979C>T (p.His327Tyr)	BRF1, BTBD6 (H274Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345919	NM_001387567.1(BTBD6):c.1337G>A (p.Arg446Gln)	BRF1, BTBD6 (R393Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342540	NM_001387567.1(BTBD6):c.187A>G (p.Ser63Gly)	BRF1, BTBD6 (S63G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336815	NM_001387567.1(BTBD6):c.1613C>T (p.Ala538Val)	BRF1, BTBD6 (A485V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306680	NM_001387567.1(BTBD6):c.1222G>C (p.Gly408Arg)	BRF1, BTBD6 (G355R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2305091	NM_001387567.1(BTBD6):c.1558A>G (p.Ser520Gly)	BRF1, BTBD6 (S467G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302720	NM_001387567.1(BTBD6):c.439G>A (p.Ala147Thr)	BRF1, BTBD6 (A147T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2297368	NM_001387567.1(BTBD6):c.1391G>A (p.Ser464Asn)	BRF1, BTBD6 (S464N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281015	NM_001387567.1(BTBD6):c.992G>A (p.Arg331Gln)	BRF1, BTBD6 (R331Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279158	NM_001387567.1(BTBD6):c.937T>G (p.Cys313Gly)	BRF1, BTBD6 (C313G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268526	NM_001387567.1(BTBD6):c.1048G>A (p.Ala350Thr)	BRF1, BTBD6 (A297T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265052	NM_001387567.1(BTBD6):c.313C>T (p.Leu105Phe)	BRF1, BTBD6 (L105F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259712	NM_001387567.1(BTBD6):c.595A>C (p.Ser199Arg)	BRF1, BTBD6 (S146R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256634	NM_001387567.1(BTBD6):c.817C>T (p.Arg273Trp)	BRF1, BTBD6 (R220W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209784	NM_001387567.1(BTBD6):c.1018A>G (p.Thr340Ala)	BRF1, BTBD6 (T287A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1681847	NC_000014.8:g.(?_103336539)_(105861009_?)dup	ADSS1, AHNAK2 +37 more	Duplication	not provided	GUncertain significance
Select item 1526439	GRCh37/hg19 14q32.33(chr14:105708747-105820513)	BRF1, BTBD6 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	PACS2, PLD4 +67 more	Copy number loss	not specified	GPathogenic
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	ANKRD9, ASPG +47 more	Duplication	not provided	GUncertain significance
Select item 1341203	GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	ADSS1, AHNAK2 +60 more	Copy number loss	not provided	GPathogenic
Select item 980625	GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	BRF1, AHNAK2 +62 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	KIF26A, KLC1 +112 more	Copy number loss	See cases	GPathogenic
Select item 815684	GRCh37/hg19 14q32.33(chr14:105690721-106019451)x3	BTBD6, TMEM121 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815683	GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1	IGHA2, CEP170B +27 more	Copy number loss	not provided	GPathogenic
Select item 815682	GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1	ZBTB42, ADSS1 +34 more	Copy number loss	not provided	GPathogenic
Select item 815679	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	RCOR1, TNFAIP2 +56 more	Copy number loss	not provided	GPathogenic
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 688307	GRCh37/hg19 14q32.33(chr14:105708746-106020555)x3	BRF1, BTBD6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 687726	GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	INF2, JAG2 +67 more	Copy number loss	not provided	GPathogenic
Select item 687600	GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1	ADSS1, AHNAK2 +33 more	Copy number loss	not provided	GUncertain significance
Select item 687405	GRCh37/hg19 14q32.33(chr14:105500759-106044679)x3	PACS2, TEDC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 686480	GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	ADSS1, AHNAK2 +58 more	Copy number loss	not provided	GPathogenic
Select item 685986	GRCh37/hg19 14q32.33(chr14:105677530-106044679)x3	BRF1, BTBD6 +8 more	Copy number gain	not provided	GUncertain significance
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic
Select item 564134	GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	ADSS1, AHNAK2 +53 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	ADSS1, AHNAK2 +96 more	Copy number loss	See cases	GPathogenic
Select item 443538	GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1	ADSS1, AHNAK2 +34 more	Copy number loss	See cases	GPathogenic
Select item 443301	GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1	ADSS1, AHNAK2 +49 more	Copy number loss	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 442421	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	ADSS1, AHNAK2 +56 more	Copy number loss	See cases	GPathogenic
Select item 441703	GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	ADSS1, AHNAK2 +62 more	Copy number loss	See cases	GPathogenic
Select item 441644	GRCh37/hg19 14q32.33(chr14:105587643-106560949)x3	BRF1, BTBD6 +20 more	Copy number gain	See cases	GLikely benign
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 254021	GRCh37/hg19 14q32.33(chr14:105393054-105996538)x1	TEDC1, CDCA4 +14 more	Copy number loss	See cases	GUncertain significance
Select item 221344	chr14:104643721..105932775 complex variant	CLBA1, JAG2 +19 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 153898	GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1	LOC130056686, LOC130056687 +156 more	Copy number loss	See cases	GUncertain significance
Select item 153795	GRCh38/hg38 14q32.33(chr14:105224887-106877229)x6	BRF1, BTBD6 +152 more	Copy number gain	See cases	GUncertain significance
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic

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