DEGS2[gene] - ClinVar

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Items: 56

	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 57812	GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1	BCL11B, CCDC85C +81 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 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	LOC130056444, LOC130056445 +97 more	Copy number loss	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 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +131 more	Copy number loss	See cases	GPathogenic
Select item 3271476	NM_206918.3(DEGS2):c.941G>A (p.Arg314Gln)	DEGS2 (R314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779357	NM_206918.3(DEGS2):c.873C>T (p.His291=)	DEGS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2591125	NM_206918.3(DEGS2):c.863C>T (p.Pro288Leu)	DEGS2 (P288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516320	NM_206918.3(DEGS2):c.838G>A (p.Ala280Thr)	DEGS2 (A280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081358	NM_206918.3(DEGS2):c.816C>G (p.Asn272Lys)	DEGS2 (N272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081357	NM_206918.3(DEGS2):c.679G>A (p.Gly227Ser)	DEGS2 (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356475	NM_206918.3(DEGS2):c.569C>T (p.Thr190Met)	DEGS2 (T190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271478	NM_206918.3(DEGS2):c.532C>T (p.His178Tyr)	DEGS2 (H178Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714522	NM_206918.3(DEGS2):c.462C>T (p.Cys154=)	DEGS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539581	NM_206918.3(DEGS2):c.437C>T (p.Thr146Met)	DEGS2 (T146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363525	NM_206918.3(DEGS2):c.424G>A (p.Val142Met)	DEGS2 (V142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509992	NM_206918.3(DEGS2):c.415G>A (p.Gly139Arg)	DEGS2 (G139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081356	NM_206918.3(DEGS2):c.346G>A (p.Val116Met)	DEGS2 (V116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271477	NM_206918.3(DEGS2):c.317G>A (p.Arg106His)	DEGS2 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368222	NM_206918.3(DEGS2):c.310C>T (p.Arg104Cys)	DEGS2 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460880	NM_206918.3(DEGS2):c.302G>A (p.Arg101His)	DEGS2 (R101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383642	NM_206918.3(DEGS2):c.298G>A (p.Gly100Ser)	DEGS2 (G100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388601	NM_206918.3(DEGS2):c.283G>A (p.Ala95Thr)	DEGS2 (A95T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081355	NM_206918.3(DEGS2):c.254C>T (p.Thr85Met)	DEGS2 (T85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281827	NM_206918.3(DEGS2):c.157G>C (p.Val53Leu)	DEGS2 (V53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411442	NM_206918.3(DEGS2):c.124C>T (p.Arg42Cys)	DEGS2 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081354	NM_206918.3(DEGS2):c.122C>T (p.Pro41Leu)	DEGS2 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271479	NM_206918.3(DEGS2):c.37G>T (p.Val13Phe)	DEGS2 (V13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244102	NC_000014.8:g.(?_99375322)_(101142891_?)dup	BCL11B, BEGAIN +13 more	Duplication	not provided	GUncertain significance
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 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 2578330	GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1	BEGAIN, DEGS2 +25 more	Copy number loss	Motor developmental delay due to 14q32.2 paternally expressed gene defect	GPathogenic
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 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 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 813332	GRCh37/hg19 14q32.2(chr14:100317190-101012999)	BEGAIN, DEGS2 +7 more	Copy number loss	Gabriele de Vries syndrome	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
Select item 625815	GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)	BEGAIN, CCDC85C +35 more	Copy number gain	not provided	GLikely pathogenic
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic
Select item 564133	GRCh37/hg19 14q32.2(chr14:98924025-101159952)x3	WDR25, LINC02914 +14 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	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 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 56