MKRN2[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 148966	GRCh38/hg38 3p25.2(chr3:12487565-12997325)x3	CAND2, IQSEC1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 3156238	NM_014160.5(MKRN2):c.146C>T (p.Thr49Ile)	MKRN2 (T49I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515486	NM_014160.5(MKRN2):c.167C>T (p.Thr56Met)	MKRN2 (T56M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371935	NM_014160.5(MKRN2):c.167C>A (p.Thr56Lys)	MKRN2 (T13K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604876	NM_014160.5(MKRN2):c.227C>T (p.Pro76Leu)	MKRN2 (P33L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279673	NM_014160.5(MKRN2):c.237C>G (p.His79Gln)	MKRN2 (H36Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257505	NM_014160.5(MKRN2):c.254C>G (p.Ser85Cys)	MKRN2 (S85C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157920	NM_014160.5(MKRN2):c.305G>A (p.Arg102His)	MKRN2 (R59H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158471	NM_014160.5(MKRN2):c.401G>C (p.Ser134Thr)	MKRN2 (S91T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541764	NM_014160.5(MKRN2):c.401G>A (p.Ser134Asn)	MKRN2 (S91N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410590	NM_014160.5(MKRN2):c.403G>C (p.Asp135His)	MKRN2 (D135H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323624	NM_014160.5(MKRN2):c.431C>T (p.Pro144Leu)	MKRN2 (P101L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258796	NM_014160.5(MKRN2):c.440A>G (p.Tyr147Cys)	MKRN2 (Y104C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552738	NM_014160.5(MKRN2):c.499G>A (p.Glu167Lys)	MKRN2 (E167K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159923	NM_014160.5(MKRN2):c.520G>A (p.Ala174Thr)	MKRN2 (A131T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160314	NM_014160.5(MKRN2):c.529G>A (p.Gly177Arg)	MKRN2 (G134R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462626	NM_014160.5(MKRN2):c.632C>T (p.Ala211Val)	MKRN2 (A168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593019	NM_014160.5(MKRN2):c.881T>G (p.Ile294Arg)	MKRN2 (I251R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245337	NM_014160.5(MKRN2):c.1066G>A (p.Glu356Lys)	MKRN2 (E356K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153291	NM_014160.5(MKRN2):c.1117T>C (p.Phe373Leu)	MKRN2 (F373L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153894	NM_014160.5(MKRN2):c.1129C>T (p.Arg377Trp)	MKRN2 (R334W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153580	NM_014160.5(MKRN2):c.1129C>G (p.Arg377Gly)	MKRN2 (R334G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469977	NM_014160.5(MKRN2):c.1130G>A (p.Arg377Gln)	MKRN2 (R377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382599	NM_014160.5(MKRN2):c.1169T>A (p.Val390Asp)	MKRN2 (V347D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472579	NM_014160.5(MKRN2):c.1175A>G (p.Asn392Ser)	MKRN2 (N349S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616125	NM_014160.5(MKRN2):c.1189G>A (p.Asp397Asn)	MKRN2 (D354N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228451	NM_014160.5(MKRN2):c.1204G>A (p.Gly402Arg)	MKRN2 (G359R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253932	NM_014160.5(MKRN2):c.1214T>G (p.Phe405Cys)	MKRN2 (F362C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253933	NM_014160.5(MKRN2):c.1219C>A (p.His407Asn)	MKRN2 (H364N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879571	NM_014160.5(MKRN2):c.1221C>T (p.His407=)	MKRN2, RAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 902116	NM_014160.5(MKRN2):c.*1420G>A	MKRN2, RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 903003	NM_014160.5(MKRN2):c.*1421T>A	MKRN2, RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 44623	NM_002880.4(RAF1):c.1941C>T (p.Val647=)	MKRN2, RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2424560	NC_000003.11:g.(?_12558090)_(12629156_?)dup	MKRN2, RAF1 +1 more	Duplication	RASopathy	GUncertain significance
Select item 1527001	GRCh37/hg19 3p25.2(chr3:12609549-12720004)	MKRN2, RAF1	Copy number loss	not specified	GUncertain significance
Select item 1527000	GRCh37/hg19 3p25.2(chr3:12503638-12803254)	MKRN2, RAF1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340848	GRCh37/hg19 3p25.2(chr3:12340850-12606966)x3	MKRN2, PPARG +1 more	Copy number gain	not provided	GUncertain significance
Select item 980629	GRCh37/hg19 3p25.2(chr3:12522670-12893013)x3	RAF1, CAND2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562755	GRCh37/hg19 3p25.2(chr3:12534326-12826919)x3	TMEM40, MKRN2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562754	GRCh37/hg19 3p25.2(chr3:12526440-12839915)x3	TMEM40, TSEN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 560052	Single allele	CAND2, IQSEC1 +4 more	Duplication	not provided	GUncertain significance
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 62