ClinVar for Gene (Select 7681) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376562	NM_005664.4(MKRN3):c.1252dup (p.Tyr418fs)	MKRN3 (Y418fs)	Duplication (frameshift variant)	Precocious puberty, central, 2	GUncertain significance
Select item 3374711	GRCh37/hg19 15q11.2(chr15:22698522-25199682)x1	CYFIP1, GOLGA6L1 +11 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 3295015	NM_005664.4(MKRN3):c.809G>A (p.Gly270Glu)	MKRN3 (G270E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295014	NM_005664.4(MKRN3):c.1361G>A (p.Gly454Asp)	MKRN3 (G454D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295013	NM_005664.4(MKRN3):c.664G>A (p.Glu222Lys)	MKRN3 (E222K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250355	NC_000015.10:g.(?_22786657)_(28299516_?)dup	SNORD115-26, SNORD115-27 +162 more	Duplication	15q11q13 microduplication syndrome	GLikely pathogenic
Select item 3172963	NM_005664.4(MKRN3):c.481C>T (p.Pro161Ser)	MKRN3 (P161S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171256	NM_005664.4(MKRN3):c.347G>A (p.Arg116His)	MKRN3 (R116H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168373	NM_005664.4(MKRN3):c.1159C>A (p.Leu387Ile)	MKRN3 (L387I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148890	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28962791)x1	ATP10A, CYFIP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 3148851	GRCh37/hg19 15q11.2(chr15:22770422-24249075)x1	CYFIP1, GOLGA6L2 +6 more	Copy number loss	not provided	GPathogenic
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063363	GRCh37/hg19 15q11.2-12(chr15:23620191-25972663)x1	ATP10A, GOLGA6L2 +17 more	Copy number loss	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062005	GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4	GABRA5, GOLGA6L26 +170 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3058473	NM_005664.4(MKRN3):c.618T>C (p.Phe206=)	MKRN3	Single nucleotide variant (synonymous variant)	MKRN3-related disorder	GLikely benign
Select item 3050866	NM_005664.4(MKRN3):c.114C>G (p.Ser38=)	MKRN3	Single nucleotide variant (synonymous variant)	MKRN3-related disorder	GLikely benign
Select item 3050081	NM_005664.4(MKRN3):c.798C>T (p.Cys266=)	MKRN3	Single nucleotide variant (synonymous variant)	MKRN3-related disorder	GLikely benign
Select item 3049328	NM_005664.4(MKRN3):c.435G>A (p.Thr145=)	MKRN3	Single nucleotide variant (synonymous variant)	MKRN3-related disorder	GLikely benign
Select item 3026156	NC_000015.10:g.23564798C>T	MKRN3	Single nucleotide variant	not provided	GBenign
Select item 2685503	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684750	GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3	ATP10A, CYFIP1 +27 more	Copy number gain	not provided	GPathogenic
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2663786	NC_000015.10:g.(?_23319714)_(28314256_?)del	GABRA5, PWRN4 +143 more	Deletion	Angelman syndrome	GPathogenic
Select item 2644974	NM_005664.4(MKRN3):c.900G>A (p.Ser300=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644973	NM_005664.3(MKRN3):c.-265G>A	MKRN3	Single nucleotide variant	not provided	GBenign
Select item 2644972	NC_000015.10:g.23564819G>A	MKRN3	Single nucleotide variant	not provided	GBenign
Select item 2615515	NM_005664.4(MKRN3):c.410C>T (p.Ala137Val)	MKRN3 (A137V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579285	GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1	ATP10A, ATP10A-DT +163 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 2578750	GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1	PWAR6, PWARSN +22 more	Copy number loss	not provided	GPathogenic
Select item 2578749	GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4	PWAR4, PWAR5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2574688	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)	APBA2, ATP10A +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
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 2532320	NM_005664.4(MKRN3):c.170C>T (p.Pro57Leu)	MKRN3 (P57L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507669	NM_005664.4(MKRN3):c.1487A>G (p.His496Arg)	MKRN3 (H496R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2506559	GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579)	PWAR4, PWAR5 +22 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 2498629	GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1	GOLGA6L2, ATP10A +22 more	Copy number loss	not provided	GPathogenic
Select item 2497936	NM_005664.4(MKRN3):c.-87C>T	MKRN3	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2496339	NM_005664.4(MKRN3):c.148C>T (p.His50Tyr)	MKRN3 (H50Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456573	NM_005664.4(MKRN3):c.131C>T (p.Pro44Leu)	MKRN3 (P44L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445212	Single allele	CYFIP1, GOLGA6L2 +11 more	Duplication	See cases	GLikely pathogenic
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 2433752	NM_005664.4(MKRN3):c.-81C>T	MKRN3	Single nucleotide variant (5 prime UTR variant)	Precocious puberty, central, 2	GUncertain significance
Select item 2431610	NM_005664.4(MKRN3):c.482del (p.Pro161fs)	MKRN3 (P161fs)	Deletion (frameshift variant)	Precocious puberty, central, 2	GPathogenic
Select item 2426508	NC_000015.9:g.(?_23006221)_(23932364_?)del	GOLGA6L2, MAGEL2 +4 more	Deletion	not provided	GUncertain significance
Select item 2406671	NM_005664.4(MKRN3):c.76G>T (p.Gly26Cys)	MKRN3 (G26C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393987	NM_005664.4(MKRN3):c.638G>A (p.Arg213Gln)	MKRN3 (R213Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375685	NM_005664.4(MKRN3):c.434C>T (p.Thr145Met)	MKRN3 (T145M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374608	NM_005664.4(MKRN3):c.455C>T (p.Pro152Leu)	MKRN3 (P152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2372838	NM_005664.4(MKRN3):c.152C>T (p.Ala51Val)	MKRN3 (A51V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2353500	NM_005664.4(MKRN3):c.122C>G (p.Ser41Cys)	MKRN3 (S41C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347788	NM_005664.4(MKRN3):c.370C>T (p.Arg124Trp)	MKRN3 (R124W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345021	NM_005664.4(MKRN3):c.637C>T (p.Arg213Trp)	MKRN3 (R213W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339100	NM_005664.4(MKRN3):c.257C>T (p.Pro86Leu)	MKRN3 (P86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303205	NM_005664.4(MKRN3):c.461A>G (p.Gln154Arg)	MKRN3 (Q154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254600	NM_005664.4(MKRN3):c.1383T>G (p.Ile461Met)	MKRN3 (I461M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237640	NM_005664.4(MKRN3):c.109C>T (p.Pro37Ser)	MKRN3 (P37S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231225	NM_005664.4(MKRN3):c.974A>G (p.Asn325Ser)	MKRN3 (N325S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2211747	NM_005664.4(MKRN3):c.1511A>G (p.Asn504Ser)	MKRN3 (N504S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879315	GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1879314	GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1	PWAR4, PWARSN +26 more	Copy number loss	not provided	GPathogenic
Select item 1809289	GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3	ATP10A, GABRA5 +22 more	Copy number gain	not provided	GPathogenic
Select item 1808719	GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808717	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1808668	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808643	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3	ATP10A, GABRA5 +22 more	Copy number gain	not provided	GPathogenic
Select item 1808627	GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4	APBA2, ATP10A +32 more	Copy number gain	not provided	GPathogenic
Select item 1808619	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1807745	GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807576	GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3	HERC2, IPW +22 more	Copy number gain	not provided	GPathogenic
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 1711392	GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1	ATP10A, CYFIP1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1707430	GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1	ATP10A, GABRA5 +22 more	Copy number loss	See cases	GPathogenic
Select item 1707424	GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368)	APBA2, ARHGAP11B +42 more	Copy number gain	See cases	GPathogenic
Select item 1705939	GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1	CYFIP1, GOLGA6L2 +20 more	Copy number loss	Hypotonia	GPathogenic
Select item 1704347	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3	ATP10A, CYFIP1 +27 more	Copy number gain	FETAL DEMISE	GUncertain significance
Select item 1703689	Single allele	APBA2, ARHGAP11B +42 more	Complex	Distal tetrasomy 15q	GPathogenic
Select item 1703673	GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703672	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014)	APBA2, ATP10A +30 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703671	GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399)	ENTREP2, APBA2 +28 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703670	GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703669	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703637	GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)	ATP10A, GABRA5 +22 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 1703557	GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058)	ATP10A, CYFIP1 +26 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1677218	NM_005664.4(MKRN3):c.1034G>A (p.Arg345His)	MKRN3 (R345H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1447182	NC_000015.9:g.(?_23006221)_(23932364_?)dup	GOLGA6L2, MAGEL2 +4 more	Duplication	not provided	GUncertain significance
Select item 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	GPathogenic
Select item 1340155	GRCh37/hg19 15q11.2(chr15:22770422-24058623)x3	CYFIP1, GOLGA6L2 +6 more	Copy number gain	not provided	GLikely pathogenic
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 1189862	NM_005664.4(MKRN3):c.802_803del (p.Met268fs)	MKRN3 (M268fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1180527	GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1172827	GRCh37/hg19 15q11.2-12(chr15:22722801-26749200)	ATP10A, CYFIP1 +22 more	Copy number gain	Cerebral palsy	Grisk factor

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