ClinVar for Gene (Select 122616) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145333	NM_174891.4(CLBA1):c.772A>T (p.Ser258Cys)	CLBA1 (S258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145332	NM_174891.4(CLBA1):c.632G>A (p.Arg211His)	CLBA1 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145331	NM_174891.4(CLBA1):c.587T>G (p.Leu196Arg)	CLBA1 (L196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145330	NM_174891.4(CLBA1):c.493G>C (p.Asp165His)	CLBA1 (D165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145328	NM_174891.4(CLBA1):c.469A>G (p.Ile157Val)	CLBA1 (I157V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145327	NM_174891.4(CLBA1):c.22G>C (p.Gly8Arg)	CLBA1 (G8R)	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 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	ADSS1, AHNAK2 +32 more	Copy number gain	not provided	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 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +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 2426765	NC_000014.8:g.(?_105167703)_(105861009_?)del	ADSS1, AHNAK2 +14 more	Deletion	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 2424377	NC_000014.8:g.(?_105452081)_(105644072_?)del	CDCA4, CLBA1 +3 more	Deletion	not provided	GUncertain significance
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 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	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 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	CLBA1, CRIP1 +34 more	Copy number loss	not provided	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 687600	GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1	ADSS1, AHNAK2 +33 more	Copy number loss	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 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 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	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 254021	GRCh37/hg19 14q32.33(chr14:105393054-105996538)x1	TEDC1, CDCA4 +14 more	Copy number loss	See cases	GUncertain significance
Select item 253728	GRCh37/hg19 14q32.33(chr14:105259639-105523673)x1	CDCA4, ZBTB42 +6 more	Copy number loss	See cases	GUncertain significance
Select item 221344	chr14:104643721..105932775 complex variant	PACS2, PLD4 +19 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 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	MIR4710, MIR5195 +304 more	Copy number gain	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 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	LOC130056667, LOC130056668 +241 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 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LINC00605, LINC00677 +416 more	Copy number loss	See cases	GPathogenic
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	AHNAK2, BRF1 +85 more	Copy number gain	See cases	GUncertain significance
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 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 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 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
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 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR494, MIR495 +530 more	Copy number gain	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 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
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 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 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 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 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 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	LOC130056492, LOC130056485 +561 more	Copy number loss	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 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 74