MKRN3[gene] and "single gene"[properties] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3026156	NC_000015.10:g.23564798C>T	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 2644973	NM_005664.3(MKRN3):c.-265G>A	MKRN3	Single nucleotide variant	not provided	GBenign
Select item 2497936	NM_005664.4(MKRN3):c.-87C>T	MKRN3	Single nucleotide variant (5 prime UTR 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 2406671	NM_005664.4(MKRN3):c.76G>T (p.Gly26Cys)	MKRN3 (G26C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 798013	NM_005664.4(MKRN3):c.102C>A (p.Val34=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030007	NM_005664.4(MKRN3):c.103T>G (p.Cys35Gly)	MKRN3 (C35G)	Single nucleotide variant (missense variant)	Precocious puberty, central, 2	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 3050866	NM_005664.4(MKRN3):c.114C>G (p.Ser38=)	MKRN3	Single nucleotide variant (synonymous variant)	MKRN3-related disorder	GLikely benign
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 2456573	NM_005664.4(MKRN3):c.131C>T (p.Pro44Leu)	MKRN3 (P44L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 744272	NM_005664.4(MKRN3):c.153G>A (p.Ala51=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 817441	NM_005664.4(MKRN3):c.208_214dup (p.Leu72fs)	MKRN3 (L72fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 732331	NM_005664.4(MKRN3):c.225C>T (p.Ala75=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 738735	NM_005664.4(MKRN3):c.276C>T (p.Ser92=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625144	NM_005664.4(MKRN3):c.326G>A (p.Cys109Tyr)	MKRN3 (C109Y)	Single nucleotide variant (missense variant)	Precocious puberty, central, 2	GLikely pathogenic
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 731888	NM_005664.4(MKRN3):c.357C>T (p.His119=)	MKRN3	Single nucleotide variant (synonymous variant)	MKRN3-related disorder +1 more	GLikely benign
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 726815	NM_005664.4(MKRN3):c.393C>T (p.Gly131=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745732	NM_005664.4(MKRN3):c.399G>A (p.Ser133=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723342	NM_005664.4(MKRN3):c.402G>A (p.Pro134=)	MKRN3	Single nucleotide variant (synonymous 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 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 2375685	NM_005664.4(MKRN3):c.434C>T (p.Thr145Met)	MKRN3 (T145M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2374608	NM_005664.4(MKRN3):c.455C>T (p.Pro152Leu)	MKRN3 (P152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 56904	NM_005664.4(MKRN3):c.482dup (p.Ala162fs)	MKRN3 (A162fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2431610	NM_005664.4(MKRN3):c.482del (p.Pro161fs)	MKRN3 (P161fs)	Deletion (frameshift variant)	Precocious puberty, central, 2	GPathogenic
Select item 738841	NM_005664.4(MKRN3):c.477C>A (p.Ala159=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748368	NM_005664.4(MKRN3):c.480C>G (p.Pro160=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1312434	NM_005664.4(MKRN3):c.515G>A (p.Gly172Asp)	MKRN3 (G172D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727967	NM_005664.4(MKRN3):c.566G>A (p.Arg189His)	MKRN3 (R189H)	Single nucleotide variant (missense variant)	MKRN3-related disorder +2 more	GConflicting classifications of pathogenicity
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 56901	NM_005664.4(MKRN3):c.637del (p.Arg213fs)	MKRN3 (R213fs)	Deletion (frameshift variant)	Precocious puberty, central, 2	GPathogenic
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 2393987	NM_005664.4(MKRN3):c.638G>A (p.Arg213Gln)	MKRN3 (R213Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3050081	NM_005664.4(MKRN3):c.798C>T (p.Cys266=)	MKRN3	Single nucleotide variant (synonymous variant)	MKRN3-related disorder	GLikely benign
Select item 1189862	NM_005664.4(MKRN3):c.802_803del (p.Met268fs)	MKRN3 (M268fs)	Deletion (frameshift variant)	MKRN3-related disorder +1 more	GLikely pathogenic
Select item 2644974	NM_005664.4(MKRN3):c.900G>A (p.Ser300=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 438339	NM_005664.4(MKRN3):c.982C>T (p.Arg328Cys)	MKRN3 (R328C)	Single nucleotide variant (missense variant)	Precocious puberty, central, 2	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 1677218	NM_005664.4(MKRN3):c.1034G>A (p.Arg345His)	MKRN3 (R345H)	Single nucleotide variant (missense variant)	not specified	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 56903	NM_005664.4(MKRN3):c.1095G>T (p.Arg365Ser)	MKRN3 (R365S)	Single nucleotide variant (missense variant)	Precocious puberty, central, 2	GPathogenic
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 56902	NM_005664.4(MKRN3):c.1172dup (p.Tyr391Ter)	MKRN3 (Y391*)	Duplication (nonsense)	Precocious puberty, central, 2	GPathogenic
Select item 747883	NM_005664.4(MKRN3):c.1311A>G (p.Ser437=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752071	NM_005664.4(MKRN3):c.1317C>T (p.Ser439=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733383	NM_005664.4(MKRN3):c.1318G>A (p.Ala440Thr)	MKRN3 (A440T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 792189	NM_005664.4(MKRN3):c.1452G>A (p.Glu484=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724914	NM_005664.4(MKRN3):c.1457C>G (p.Pro486Arg)	MKRN3 (P486R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2507669	NM_005664.4(MKRN3):c.1487A>G (p.His496Arg)	MKRN3 (H496R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738173	NM_005664.4(MKRN3):c.1491T>C (p.Tyr497=)	MKRN3	Single nucleotide variant (synonymous variant)	not provided	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

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Items: 68