17441[HGNC] - ClinVar - NCBI

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	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 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 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 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	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 1944963	NM_015156.4(RCOR1):c.8C>A (p.Ala3Asp)	RCOR1 (A3D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944368	NM_015156.4(RCOR1):c.35C>T (p.Ser12Leu)	RCOR1 (S12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643092	NM_015156.4(RCOR1):c.76_96del (p.Ser26_Ala32del)	RCOR1	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2177079	NM_015156.4(RCOR1):c.70TCCGCC[1] (p.24SA[1])	RCOR1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2853807	NM_015156.4(RCOR1):c.68C>T (p.Ala23Val)	RCOR1 (A23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721972	NM_015156.4(RCOR1):c.69C>T (p.Ala23=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420186	NM_015156.4(RCOR1):c.73GCCTCCGCCGCCGCC[3] (p.Ala34_Ser35insAlaSerAlaAlaAla)	RCOR1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1494061	NM_015156.4(RCOR1):c.73GCCTCCGCCGCCGCC[1] (p.25ASAAA[1])	RCOR1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2073764	NM_015156.4(RCOR1):c.76T>G (p.Ser26Ala)	RCOR1 (S26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476816	NM_015156.4(RCOR1):c.79GCC[5] (p.Ala30dup)	RCOR1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1588256	NM_015156.4(RCOR1):c.93C>T (p.Ser31=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2274411	NM_015156.4(RCOR1):c.107C>T (p.Ala36Val)	RCOR1 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312227	NM_015156.4(RCOR1):c.133G>A (p.Ala45Thr)	LOC130056530, RCOR1 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1578452	NM_015156.4(RCOR1):c.138C>T (p.Ala46=)	LOC130056530, RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426848	NM_015156.4(RCOR1):c.154_192del (p.Ser52_Ala64del)	LOC130056530, RCOR1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2715840	NM_015156.4(RCOR1):c.153CTC[1] (p.Ser53del)	LOC130056530, RCOR1 (S53del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3009238	NM_015156.4(RCOR1):c.175_192del (p.Ala59_Ala64del)	LOC130056530, RCOR1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3152743	NM_015156.4(RCOR1):c.181G>T (p.Ala61Ser)	LOC130056530, RCOR1 (A61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2171992	NM_015156.4(RCOR1):c.192C>T (p.Ala64=)	LOC130056530, RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364436	NM_015156.4(RCOR1):c.197A>G (p.Asn66Ser)	LOC130056530, RCOR1 (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003291	NM_015156.4(RCOR1):c.204C>T (p.Gly68=)	LOC130056530, RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817707	NM_015156.4(RCOR1):c.283T>A (p.Ser95Thr)	LOC130056530, RCOR1 (S95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858387	NM_015156.4(RCOR1):c.361+10_361+11del	LOC130056530, RCOR1	Deletion (intron variant)	not provided	GBenign
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 3152744	NM_015156.4(RCOR1):c.400G>T (p.Gly134Cys)	RCOR1 (G134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1561232	NM_015156.4(RCOR1):c.432G>C (p.Leu144=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 548645	NM_015156.4(RCOR1):c.446-3C>T	RCOR1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 2885317	NM_015156.4(RCOR1):c.462C>T (p.Ala154=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771907	NM_015156.4(RCOR1):c.498+9A>G	RCOR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1528766	NM_015156.4(RCOR1):c.567C>A (p.Thr189=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2888896	NM_015156.4(RCOR1):c.716C>T (p.Thr239Met)	RCOR1, LOC126862063 (T239M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082085	NM_015156.4(RCOR1):c.717G>A (p.Thr239=)	RCOR1, LOC126862063	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644584	NM_015156.4(RCOR1):c.742C>T (p.Arg248Cys)	LOC126862063, RCOR1 (R248C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093909	NM_015156.4(RCOR1):c.751C>T (p.Arg251Trp)	LOC126862063, RCOR1 (R251W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112969	NM_015156.4(RCOR1):c.795A>G (p.Glu265=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059784	NM_015156.4(RCOR1):c.858+14dup	RCOR1	Duplication (intron variant)	not provided	GBenign
Select item 1905625	NM_015156.4(RCOR1):c.859-6A>T	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865306	NM_015156.4(RCOR1):c.864C>T (p.Pro288=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055691	NM_015156.4(RCOR1):c.963A>G (p.Gln321=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152745	NM_015156.4(RCOR1):c.994A>G (p.Thr332Ala)	RCOR1 (T332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2868193	NM_015156.4(RCOR1):c.1053+12C>A	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995815	NM_015156.4(RCOR1):c.1053+19T>G	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620665	NM_015156.4(RCOR1):c.1065T>C (p.Ile355=)	RCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1957792	NM_015156.4(RCOR1):c.1189+17C>A	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969755	NM_015156.4(RCOR1):c.1190-13C>T	LOC126862064, RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1545799	NM_015156.4(RCOR1):c.1190-9C>T	LOC126862064, RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3152742	NM_015156.4(RCOR1):c.1346C>G (p.Thr449Ser)	LOC126862064, RCOR1 (T449S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1621977	NM_015156.4(RCOR1):c.1349A>G (p.Asn450Ser)	LOC126862064, RCOR1 (N450S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1622744	NM_015156.4(RCOR1):c.1404C>T (p.Pro468=)	LOC126862064, RCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2860946	NM_015156.4(RCOR1):c.1414G>A (p.Asp472Asn)	LOC126862064, RCOR1 (D472N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899686	NM_015156.4(RCOR1):c.1420-15T>C	RCOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3244098	NC_000014.8:g.(?_103148212)_(103192843_?)dup	RCOR1	Duplication	not provided	GUncertain significance
Select item 3244097	NC_000014.8:g.(?_102843059)_(103397017_?)dup	AMN, ANKRD9 +3 more	Duplication	not provided	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 3244018	NC_000014.8:g.(?_102431029)_(103397017_?)dup	AMN, ANKRD9 +9 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	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 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 3024584	GRCh37/hg19 14q32.31(chr14:102749815-103192843)x3	ANKRD9, CINP +4 more	Copy number gain	not provided	GUncertain significance
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 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 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 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	TECPR2, TMEM179 +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 1339794	GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4	AMN, ANKRD9 +6 more	Copy number gain	not provided	Gnot provided
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 980624	GRCh37/hg19 14q32.31-32.32(chr14:102978837-103503417)x3	AMN, CDC42BPB +2 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 815679	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	RCOR1, TNFAIP2 +56 more	Copy number loss	not provided	GPathogenic
Select item 815678	GRCh37/hg19 14q32.31-32.32(chr14:102824097-103427144)x3	ANKRD9, CDC42BPB +5 more	Copy number gain	not provided	GUncertain significance
Select item 815677	GRCh37/hg19 14q32.31(chr14:102817076-103082442)x3	RCOR1, TECPR2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic

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