2361[HGNC] - ClinVar

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Items: 97

	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 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 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 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	AHNAK2, BRF1 +85 more	Copy number gain	See cases	GUncertain significance
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 146639	GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1	IGHV1-46, IGHV1-58 +174 more	Copy number loss	See cases	GPathogenic
Select item 149902	GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1	BRF1, BTBD6 +156 more	Copy number loss	See cases	GUncertain significance
Select item 153898	GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1	LOC130056686, LOC130056687 +156 more	Copy number loss	See cases	GUncertain significance
Select item 57494	GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1	BRF1, BTBD6 +154 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 154889	GRCh38/hg38 14q32.33(chr14:105453295-106879298)x1	CRIP1, CRIP2 +127 more	Copy number loss	See cases	GPathogenic
Select item 146586	GRCh38/hg38 14q32.33(chr14:105463515-105530212)x3	CRIP1, CRIP2 +17 more	Copy number gain	See cases	GBenign
Select item 151233	GRCh38/hg38 14q32.33(chr14:105471248-105491009)x3	CRIP1, CRIP2 +13 more	Copy number gain	See cases	GBenign
Select item 3026209	NM_001270837.2(CRIP2):c.210C>T (p.His70=)	CRIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611731	NM_001312.4(CRIP2):c.158G>A (p.Cys53Tyr)	CRIP2 (C127Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2252524	NM_001312.4(CRIP2):c.221C>T (p.Ser74Phe)	CRIP2 (S148F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610793	NM_001312.4(CRIP2):c.241C>A (p.Leu81Met)	CRIP2 (L81M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269517	NM_001312.4(CRIP2):c.248A>G (p.Glu83Gly)	CRIP2 (E83G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3077453	NM_001312.4(CRIP2):c.254C>A (p.Pro85Gln)	CRIP2 (P159Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291851	NM_001312.4(CRIP2):c.258G>C (p.Gln86His)	CRIP2 (Q160H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 760261	NM_001312.4(CRIP2):c.264C>T (p.Thr88=)	CRIP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2235766	NM_001312.4(CRIP2):c.266G>A (p.Gly89Asp)	CRIP2 (G89D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599607	NM_001312.4(CRIP2):c.287C>G (p.Ala96Gly)	CRIP2 (A96G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607899	NM_001312.4(CRIP2):c.290G>A (p.Arg97Gln)	CRIP2 (R171Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478527	NM_001312.4(CRIP2):c.298G>A (p.Glu100Lys)	CRIP2 (E100K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596223	NM_001312.4(CRIP2):c.312C>A (p.Ser104Arg)	CRIP2 (S178R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297514	NM_001312.4(CRIP2):c.331A>C (p.Ser111Arg)	CRIP2 (S185R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347283	NM_001312.4(CRIP2):c.383G>A (p.Arg128His)	CRIP2 (R202H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542847	NM_001312.4(CRIP2):c.405C>A (p.Phe135Leu)	CRIP2 (F135L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3077454	NM_001312.4(CRIP2):c.496G>A (p.Ala166Thr)	CRIP2 (A240T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729187	NM_001312.4(CRIP2):c.507C>T (p.Asp169=)	CRIP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3077455	NM_001312.4(CRIP2):c.528G>C (p.Lys176Asn)	CRIP2 (K176N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269516	NM_001312.4(CRIP2):c.589A>G (p.Ile197Val)	CRIP2 (I197V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3148870	GRCh37/hg19 14q32.33(chr14:105516659-107284437)x3	BRF1, BTBD6 +22 more	Copy number gain	See cases	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 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2423705	NC_000014.8:g.(?_105850747)_(105956197_?)del	CRIP1, CRIP2 +4 more	Deletion	not provided	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 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 687365	GRCh37/hg19 14q32.33(chr14:105770143-106207205)x3	BRF1, CRIP1 +12 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 442307	GRCh37/hg19 14q32.33(chr14:105814886-107285437)x1	CRIP1, CRIP2 +17 more	Copy number loss	See cases	GUncertain significance
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 221497	GRCh37/hg19 14q32.33(chr14:105936477-105995652)x3	TMEM121, CRIP1 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

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Items: 97