ETNK1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 2278766	NM_018638.4(ETNK1):c.4C>G (p.Leu2Val)	ETNK1 (L2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519007	NM_018638.5(ETNK1):c.-243A>G	ETNK1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3276586	NM_018638.5(ETNK1):c.-198T>G	ETNK1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2345421	NM_018638.5(ETNK1):c.-180C>T	ETNK1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2250455	NM_018638.5(ETNK1):c.-161C>T	ETNK1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3276583	NM_018638.5(ETNK1):c.25C>G (p.Pro9Ala)	ETNK1, LOC130007541 (P9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276585	NM_018638.5(ETNK1):c.52A>T (p.Asn18Tyr)	ETNK1, LOC130007541 (N18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562141	NM_018638.5(ETNK1):c.70C>G (p.Gln24Glu)	ETNK1, LOC130007541 (Q24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090705	NM_018638.5(ETNK1):c.80A>T (p.His27Leu)	ETNK1, LOC130007541 (H27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090706	NM_018638.5(ETNK1):c.93G>C (p.Glu31Asp)	ETNK1, LOC130007541 (E31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223418	NM_018638.5(ETNK1):c.149C>A (p.Thr50Asn)	ETNK1, LOC130007541 (T50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276584	NM_018638.5(ETNK1):c.244A>C (p.Asn82His)	ETNK1 (N82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494727	NM_018638.5(ETNK1):c.322C>G (p.Gln108Glu)	ETNK1 (Q108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498255	NM_018638.5(ETNK1):c.416+197C>T	ETNK1 (S142L)	Single nucleotide variant (missense variant +1 more)	Teratoma	GUncertain significance
Select item 3090707	NM_018638.5(ETNK1):c.571A>G (p.Ile191Val)	ETNK1 (I191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599595	NM_018638.5(ETNK1):c.594G>T (p.Gln198His)	ETNK1 (Q198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090704	NM_018638.5(ETNK1):c.819T>G (p.Asp273Glu)	ETNK1 (D273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276582	NM_018638.5(ETNK1):c.896C>T (p.Thr299Ile)	ETNK1 (T299I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495076	NM_018638.5(ETNK1):c.907G>A (p.Val303Ile)	ETNK1 (V303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 979339	GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1	GYS2, KCNJ8 +11 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 666436	GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1	BCAT1, C2CD5 +4 more	Copy number loss	Lamb-Shaffer syndrome	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 54