CKB[gene] - ClinVar

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Items: 74

	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 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 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR494, MIR495 +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	LOC130056617, LOC130056618 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	LOC130056492, LOC130056485 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LINC00605, LINC00677 +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	BRF1, ADSS1 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +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 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 147741	GRCh38/hg38 14q32.32-32.33(chr14:103003736-103557569)x1	TNFAIP2, TRMT61A +50 more	Copy number loss	See cases	GUncertain significance
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	MIR4710, MIR5195 +304 more	Copy number gain	See cases	GPathogenic
Select item 155689	GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3	ASPG, ATP5MJ +72 more	Copy number gain	See cases	GUncertain significance
Select item 2322271	NM_001823.5(CKB):c.847T>G (p.Cys283Gly)	CKB (C283G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392656	NM_001823.5(CKB):c.806A>G (p.Tyr269Cys)	CKB (Y269C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145249	NM_001823.5(CKB):c.769C>G (p.Leu257Val)	CKB (L257V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145248	NM_001823.5(CKB):c.759C>G (p.Phe253Leu)	CKB (F277L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399043	NM_001823.5(CKB):c.754C>T (p.Arg252Cys)	CKB (R252C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594617	NM_001823.5(CKB):c.680T>C (p.Val227Ala)	CKB (V227A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145247	NM_001823.5(CKB):c.598C>T (p.Pro200Ser)	CKB (P224S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403693	NM_001823.5(CKB):c.568G>A (p.Asp190Asn)	CKB (D214N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619048	NM_001823.5(CKB):c.565G>C (p.Asp189His)	CKB (D189H +1 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 2388752	NM_001823.5(CKB):c.371A>G (p.Asn124Ser)	CKB (N124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512489	NM_001823.5(CKB):c.355G>A (p.Asp119Asn)	CKB (D143N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145246	NM_001823.5(CKB):c.338A>G (p.Asp113Gly)	CKB (D113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291511	NM_001823.5(CKB):c.86A>T (p.His29Leu)	CKB (H29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340476	NM_001823.5(CKB):c.43C>G (p.Pro15Ala)	CKB (P15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206626	NM_001823.5(CKB):c.5C>T (p.Pro2Leu)	CKB (P2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
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 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	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	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	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1681847	NC_000014.8:g.(?_103336539)_(105861009_?)dup	ATP5MJ, BAG5 +37 more	Duplication	not provided	GUncertain significance
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	SIVA1, TDRD9 +67 more	Copy number loss	not specified	GPathogenic
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	WDR20, XRCC3 +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	IGHV3-23, IGHM +62 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	PPP2R5C, RCOR1 +112 more	Copy number loss	See cases	GPathogenic
Select item 815679	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	CEP170B, BAG5 +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	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 687726	GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	ADSS1, AHNAK2 +67 more	Copy number loss	not provided	GPathogenic
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 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	ADSS1, AHNAK2 +98 more	Copy number gain	not provided	GPathogenic
Select item 625708	GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)	INF2, JAG2 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 564134	GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	AMN, TEX22 +53 more	Copy number gain	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 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	AHNAK2, ADSS1 +96 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	NUMB, OTUB2 +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 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 395243	GRCh37/hg19 14q32.32-32.33(chr14:103390060-104436909)x1	AMN, ATP5MJ +15 more	Copy number loss	See cases	GPathogenic
Select item 393813	GRCh37/hg19 14q32.32-32.33(chr14:103566945-104053697)x1	BAG5, CKB +6 more	Copy number loss	See cases	GUncertain significance

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Items: 74