MKRN1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 3220001	NM_013446.4(MKRN1):c.1382C>T (p.Thr461Ile)	MKRN1 (T461I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219681	NM_013446.4(MKRN1):c.1286G>A (p.Ser429Asn)	MKRN1 (S429N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464286	NM_013446.4(MKRN1):c.1234C>T (p.Arg412Trp)	MKRN1 (R412W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219041	NM_013446.4(MKRN1):c.1186C>T (p.Arg396Cys)	MKRN1 (R396C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338700	NM_013446.4(MKRN1):c.1130G>A (p.Arg377His)	MKRN1 (R377H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295005	NM_013446.4(MKRN1):c.1076T>A (p.Leu359Gln)	MKRN1 (L359Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152095	NM_013446.4(MKRN1):c.866A>C (p.Tyr289Ser)	MKRN1 (Y225S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293959	NM_013446.4(MKRN1):c.758C>T (p.Ser253Leu)	MKRN1 (S253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295007	NM_013446.4(MKRN1):c.578G>C (p.Gly193Ala)	MKRN1 (G129A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307718	NM_013446.4(MKRN1):c.575A>G (p.Gln192Arg)	MKRN1 (Q192R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317360	NM_013446.4(MKRN1):c.530C>G (p.Pro177Arg)	MKRN1 (P177R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150289	NM_013446.4(MKRN1):c.442G>A (p.Glu148Lys)	MKRN1 (E84K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365841	NM_013446.4(MKRN1):c.440G>A (p.Gly147Asp)	MKRN1 (G147D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461789	NM_013446.4(MKRN1):c.437C>T (p.Thr146Ile)	MKRN1 (T146I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295006	NM_013446.4(MKRN1):c.385G>A (p.Ala129Thr)	MKRN1 (A129T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263205	NM_013446.4(MKRN1):c.380C>G (p.Ser127Cys)	MKRN1 (S63C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148973	NM_013446.4(MKRN1):c.280C>G (p.Gln94Glu)	MKRN1 (Q94E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251492	NM_013446.4(MKRN1):c.265G>C (p.Val89Leu)	MKRN1 (V89L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251065	NM_013446.4(MKRN1):c.217G>C (p.Asp73His)	MKRN1 (D9H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378791	NM_013446.4(MKRN1):c.94C>A (p.Pro32Thr)	MKRN1 (P32T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 797184	NM_013446.4(MKRN1):c.90G>T (p.Pro30=)	MKRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3152394	NM_013446.4(MKRN1):c.89C>G (p.Pro30Arg)	MKRN1 (P30R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605553	NM_013446.4(MKRN1):c.80C>A (p.Ser27Tyr)	MKRN1 (S27Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350798	NM_013446.4(MKRN1):c.59C>A (p.Ala20Glu)	MKRN1 (A20E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3295004	NM_013446.4(MKRN1):c.31G>T (p.Ala11Ser)	MKRN1 (A11S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	ABCB8, ABCF2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	SSBP1, TAS2R3 +34 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527405	GRCh37/hg19 7q34(chr7:140142390-140443247)	ADCK2, BRAF +3 more	Copy number gain	not specified	GUncertain significance
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 563299	GRCh37/hg19 7q34(chr7:140169259-140284519)x1	DENND2A, MKRN1	Copy number loss	not provided	GUncertain significance
Select item 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70