100128927[Gene ID] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 116

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
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 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	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 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
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 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	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 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 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 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 58348	GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3	ADSS1, AKT1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 1246843	NM_001137601.3(ZBTB42):c.45A>G (p.Arg15=)	ZBTB42	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3192089	NM_001137601.3(ZBTB42):c.80C>T (p.Thr27Ile)	ZBTB42 (T27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225381	NM_001137601.3(ZBTB42):c.127G>C (p.Ala43Pro)	ZBTB42 (A43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192084	NM_001137601.3(ZBTB42):c.156C>G (p.Phe52Leu)	ZBTB42 (F52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534758	NM_001137601.3(ZBTB42):c.165C>G (p.Asp55Glu)	ZBTB42 (D55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192085	NM_001137601.3(ZBTB42):c.181C>A (p.Arg61Ser)	ZBTB42 (R61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534760	NM_001137601.3(ZBTB42):c.187A>C (p.Thr63Pro)	ZBTB42 (T63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741991	NM_001137601.3(ZBTB42):c.204C>T (p.Gly68=)	ZBTB42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477559	NM_001137601.3(ZBTB42):c.259C>T (p.Arg87Cys)	ZBTB42 (R87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325497	NM_001137601.3(ZBTB42):c.310T>C (p.Tyr104His)	ZBTB42 (Y104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047052	NM_001137601.3(ZBTB42):c.333C>A (p.Val111=)	ZBTB42	Single nucleotide variant (synonymous variant)	ZBTB42-related disorder	GLikely benign
Select item 2386340	NM_001137601.3(ZBTB42):c.391G>A (p.Ala131Thr)	ZBTB42 (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1266544	NM_001137601.3(ZBTB42):c.400G>A (p.Ala134Thr)	ZBTB42 (A134T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2469992	NM_001137601.3(ZBTB42):c.472A>C (p.Lys158Gln)	ZBTB42 (K158Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1260467	NM_001137601.3(ZBTB42):c.570G>A (p.Leu190=)	ZBTB42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2494793	NM_001137601.3(ZBTB42):c.584G>A (p.Gly195Asp)	ZBTB42 (G195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192086	NM_001137601.3(ZBTB42):c.599G>A (p.Arg200Gln)	ZBTB42 (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348438	NM_001137601.3(ZBTB42):c.611C>T (p.Pro204Leu)	ZBTB42 (P204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458135	NM_001137601.3(ZBTB42):c.638G>T (p.Ser213Ile)	ZBTB42 (S213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 803053	NM_001137601.3(ZBTB42):c.694G>A (p.Glu232Lys)	ZBTB42 (E232K)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 6 +1 more	GBenign
Select item 2547987	NM_001137601.3(ZBTB42):c.707G>A (p.Ser236Asn)	ZBTB42 (S236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192087	NM_001137601.3(ZBTB42):c.737C>T (p.Pro246Leu)	ZBTB42 (P246L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397202	NM_001137601.3(ZBTB42):c.826C>T (p.Leu276Phe)	ZBTB42 (L276F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344513	NM_001137601.3(ZBTB42):c.848G>A (p.Ser283Asn)	ZBTB42 (S283N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046269	NM_001137601.3(ZBTB42):c.879C>A (p.Leu293=)	ZBTB42	Single nucleotide variant (synonymous variant)	ZBTB42-related disorder	GLikely benign
Select item 746127	NM_001137601.3(ZBTB42):c.966C>T (p.Ser322=)	ZBTB42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2396947	NM_001137601.3(ZBTB42):c.976C>T (p.Arg326Trp)	ZBTB42 (R326W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789824	NM_001137601.3(ZBTB42):c.977G>A (p.Arg326Gln)	ZBTB42 (R326Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3333955	NM_001137601.3(ZBTB42):c.985C>T (p.Pro329Ser)	ZBTB42 (P329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357070	NM_001137601.3(ZBTB42):c.1004C>T (p.Thr335Ile)	ZBTB42 (T335I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341493	NM_001137601.3(ZBTB42):c.1010C>T (p.Pro337Leu)	ZBTB42 (P337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 522771	NM_001137601.3(ZBTB42):c.1031C>T (p.Ser344Leu)	ZBTB42 (S344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333954	NM_001137601.3(ZBTB42):c.1042A>G (p.Thr348Ala)	ZBTB42 (T348A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492824	NM_001137601.3(ZBTB42):c.1052G>A (p.Arg351Lys)	ZBTB42 (R351K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192082	NM_001137601.3(ZBTB42):c.1061G>A (p.Arg354Gln)	ZBTB42 (R354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329842	NM_001137601.3(ZBTB42):c.1061G>T (p.Arg354Leu)	ZBTB42 (R354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1031875	NM_001137601.3(ZBTB42):c.1088C>G (p.Thr363Arg)	ZBTB42 (T363R)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 6 +1 more	GUncertain significance
Select item 2483358	NM_001137601.3(ZBTB42):c.1093G>C (p.Val365Leu)	ZBTB42 (V365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412235	NM_001137601.3(ZBTB42):c.1115A>T (p.Gln372Leu)	ZBTB42 (Q372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280943	NM_001137601.3(ZBTB42):c.1167G>A (p.Pro389=)	ZBTB42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2529447	NM_001137601.3(ZBTB42):c.1178G>A (p.Arg393Gln)	ZBTB42 (R393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183176	NM_001137601.3(ZBTB42):c.1190G>A (p.Arg397His)	ZBTB42 (R397H)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 6	GUncertain significance
Select item 780159	NM_001137601.3(ZBTB42):c.1206C>T (p.Ser402=)	ZBTB42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768678	NM_001137601.3(ZBTB42):c.1224C>T (p.His408=)	ZBTB42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3192083	NM_001137601.3(ZBTB42):c.1249G>A (p.Val417Ile)	ZBTB42 (V417I)	Single nucleotide variant (missense variant)	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 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 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
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 2425306	NC_000014.8:g.(?_105258915)_(105268803_?)dup	AKT1, ZBTB42	Duplication	Cowden syndrome 6	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 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 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	KIF26A, KLC1 +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 980626	GRCh37/hg19 14q32.33(chr14:105204147-105543486)x3	ZBTB42, CLBA1 +8 more	Copy number gain	not provided	GUncertain significance
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 979404	GRCh37/hg19 14q32.33(chr14:105112467-105285280)x3	ADSS1, AKT1 +3 more	Copy number gain	not provided	GUncertain significance
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 831735	NC_000014.9:g.(?_104677659)_(104957672_?)del	ADSS1, AHNAK2 +6 more	Deletion	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 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2