ENKD1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 2609911	NM_032140.3(ENKD1):c.934C>A (p.Leu312Met)	ENKD1 (L312M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456447	NM_032140.3(ENKD1):c.907G>A (p.Val303Ile)	ENKD1 (V303I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464475	NM_032140.3(ENKD1):c.833G>A (p.Arg278His)	ENKD1 (R278H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088889	NM_032140.3(ENKD1):c.830C>T (p.Thr277Met)	ENKD1 (T277M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356832	NM_032140.3(ENKD1):c.830C>A (p.Thr277Lys)	ENKD1 (T277K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088888	NM_032140.3(ENKD1):c.803C>T (p.Pro268Leu)	ENKD1 (P268L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496446	NM_032140.3(ENKD1):c.788G>T (p.Arg263Leu)	ENKD1 (R263L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368414	NM_032140.3(ENKD1):c.772C>T (p.Arg258Trp)	ENKD1 (R258W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088887	NM_032140.3(ENKD1):c.754C>T (p.Arg252Cys)	ENKD1 (R252C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088886	NM_032140.3(ENKD1):c.719C>T (p.Thr240Met)	ENKD1 (T240M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398860	NM_032140.3(ENKD1):c.709T>G (p.Tyr237Asp)	ENKD1 (Y237D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546549	NM_032140.3(ENKD1):c.707A>T (p.His236Leu)	ENKD1 (H236L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362897	NM_032140.3(ENKD1):c.614A>G (p.Asn205Ser)	ENKD1 (N205S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465753	NM_032140.3(ENKD1):c.608G>A (p.Arg203His)	ENKD1 (R203H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646635	NM_032140.3(ENKD1):c.570C>T (p.Pro190=)	ENKD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2513525	NM_032140.3(ENKD1):c.521G>A (p.Gly174Asp)	ENKD1 (G174D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531297	NM_032140.3(ENKD1):c.490T>C (p.Phe164Leu)	ENKD1 (F164L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289976	NM_032140.3(ENKD1):c.464C>A (p.Pro155His)	ENKD1 (P155H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275434	NM_032140.3(ENKD1):c.410C>G (p.Pro137Arg)	ENKD1 (P137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088884	NM_032140.3(ENKD1):c.403C>T (p.Arg135Cys)	ENKD1 (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467700	NM_032140.3(ENKD1):c.378G>T (p.Gln126His)	ENKD1 (Q126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408578	NM_032140.3(ENKD1):c.365G>A (p.Arg122Gln)	ENKD1 (R122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275431	NM_032140.3(ENKD1):c.320G>A (p.Arg107Gln)	ENKD1 (R107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365420	NM_032140.3(ENKD1):c.283A>G (p.Lys95Glu)	ENKD1 (K95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403484	NM_032140.3(ENKD1):c.274C>A (p.Leu92Ile)	ENKD1 (L92I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476824	NM_032140.3(ENKD1):c.253T>G (p.Ser85Ala)	ENKD1 (S85A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275433	NM_032140.3(ENKD1):c.172T>C (p.Cys58Arg)	ENKD1 (C58R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2527048	NM_032140.3(ENKD1):c.148G>C (p.Asp50His)	ENKD1 (D50H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462553	NM_032140.3(ENKD1):c.92G>C (p.Gly31Ala)	ENKD1 (G31A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285869	NM_032140.3(ENKD1):c.59C>T (p.Pro20Leu)	ENKD1, LOC130059226 (P20L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 992641	Single allele	C16orf86, CARMIL2 +6 more	Deletion	Chromosome 16q22 deletion syndrome	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564336	GRCh37/hg19 16q22.1(chr16:67629575-67812055)x1	ENKD1, RANBP10 +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395249	GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1	ACD, C16orf86 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 64