"GeneDx"[submitter] AND "MKRN3"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2497936	NM_005664.4(MKRN3):c.-87C>T	MKRN3	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 817441	NM_005664.4(MKRN3):c.208_214dup (p.Leu72fs)	MKRN3 (L72fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 741460	NM_005664.4(MKRN3):c.425G>C (p.Gly142Ala)	MKRN3 (G142A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 56904	NM_005664.4(MKRN3):c.482dup (p.Ala162fs)	MKRN3 (A162fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1312434	NM_005664.4(MKRN3):c.515G>A (p.Gly172Asp)	MKRN3 (G172D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1280339	NM_005664.4(MKRN3):c.663C>T (p.Pro221=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 523975	NM_005664.4(MKRN3):c.694_695del (p.Arg232fs)	MKRN3 (R232fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2574340	NM_005664.4(MKRN3):c.795A>G (p.Ile265Met)	MKRN3 (I265M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1189862	NM_005664.4(MKRN3):c.802_803del (p.Met268fs)	MKRN3 (M268fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1806781	NM_005664.4(MKRN3):c.1007A>G (p.Asn336Ser)	MKRN3 (N336S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381799	NM_005664.4(MKRN3):c.1046G>T (p.Ser349Ile)	MKRN3 (S349I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443540	NM_005664.4(MKRN3):c.1082G>T (p.Cys361Phe)	MKRN3 (C361F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253603	GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1	ATP10A, CYFIP1 +26 more	Copy number loss	See cases	GPathogenic
Select item 253587	GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3	ATP10A, CYFIP1 +29 more	Copy number gain	See cases	GPathogenic
Select item 253558	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4	APBA2, ARHGAP11A +51 more	Copy number gain	See cases	GPathogenic
Select item 253536	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4	APBA2, ARHGAP11B +48 more	Copy number gain	See cases	GPathogenic
Select item 253497	GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1	ATP10A, CYFIP1 +27 more	Copy number loss	See cases	GPathogenic
Select item 253444	GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3	PWAR6, PWARSN +32 more	Copy number gain	See cases	GPathogenic