"GeneDx"[submitter] AND "WNK3"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 3252503	NM_020922.5(WNK3):c.5225A>G (p.Tyr1742Cys)	WNK3 (Y1685C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582017	NM_020922.5(WNK3):c.4999A>C (p.Ile1667Leu)	WNK3 (I1610L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576850	NM_020922.5(WNK3):c.4928A>C (p.Lys1643Thr)	WNK3 (K1586T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504324	NM_020922.5(WNK3):c.4571A>T (p.Asp1524Val)	WNK3 (D1477V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502478	NM_020922.5(WNK3):c.4487G>A (p.Cys1496Tyr)	WNK3 (C1449Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253576	NM_020922.5(WNK3):c.4288G>A (p.Val1430Ile)	WNK3 (V1383I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581961	NM_020922.5(WNK3):c.4268G>T (p.Ser1423Ile)	WNK3 (S1376I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392875	NM_020922.5(WNK3):c.4267A>C (p.Ser1423Arg)	WNK3 (S1423R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365090	NM_020922.5(WNK3):c.4150_4161del (p.Glu1384_Thr1387del)	WNK3	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2578061	NM_020922.5(WNK3):c.4129A>G (p.Lys1377Glu)	WNK3 (K1330E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662846	NM_020922.5(WNK3):c.3778C>A (p.Leu1260Ile)	WNK3 (L1260I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429596	NM_020922.5(WNK3):c.2507A>C (p.Asp836Ala)	WNK3 (D836A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662484	NM_020922.5(WNK3):c.2369T>C (p.Val790Ala)	WNK3 (V790A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363414	NM_020922.5(WNK3):c.2298CAA[2] (p.Asn768del)	WNK3 (N768del)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2581955	NM_020922.5(WNK3):c.2275G>A (p.Val759Ile)	WNK3 (V759I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253113	NM_020922.5(WNK3):c.2251G>C (p.Val751Leu)	WNK3 (V751L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507061	NM_020922.5(WNK3):c.1815G>T (p.Gln605His)	WNK3 (Q605H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412965	NM_020922.5(WNK3):c.1075C>T (p.Arg359Trp)	WNK3 (R359W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253137	NM_020922.5(WNK3):c.656G>C (p.Gly219Ala)	WNK3 (G219A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503244	NM_020922.5(WNK3):c.140C>G (p.Ser47Cys)	WNK3 (S47C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503142	NM_020922.5(WNK3):c.1A>G (p.Met1Val)	WNK3 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253446	GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2	PAGE5, ASB12 +53 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253410	GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3	ZXDB, PHF8 +37 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3361101	NM_020922.5(WNK3):c.2428A>G (p.Ile810Val)	WNK3 (I810V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 42