METRNL[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	LOC130062052, LOC130062053 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 146404	GRCh38/hg38 17q25.3(chr17:82452776-83102552)x3	B3GNTL1, FN3K +48 more	Copy number gain	See cases	GUncertain significance
Select item 151145	GRCh38/hg38 17q25.3(chr17:82531299-83084062)x1	B3GNTL1, FN3K +40 more	Copy number loss	See cases	GUncertain significance
Select item 57460	GRCh38/hg38 17q25.3(chr17:82549058-83086677)x1	B3GNTL1, FN3K +39 more	Copy number loss	See cases	GUncertain significance
Select item 1098564	GRCh38/hg38 17q25.3(chr17:82586979-83257441)x1	B3GNTL1, FN3KRP +40 more	Copy number loss	See cases	GUncertain significance
Select item 154076	GRCh38/hg38 17q25.3(chr17:82597445-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 153662	GRCh38/hg38 17q25.3(chr17:82597488-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 148397	GRCh38/hg38 17q25.3(chr17:82625521-83102552)x1	B3GNTL1, FN3K +32 more	Copy number loss	See cases	GUncertain significance
Select item 149532	GRCh38/hg38 17q25.3(chr17:82884871-83102552)x1	B3GNTL1, LOC121852957 +5 more	Copy number loss	See cases	GUncertain significance
Select item 57371	GRCh38/hg38 17q25.3(chr17:82884871-83086677)x3	B3GNTL1, LOC121852957 +5 more	Copy number gain	See cases	GUncertain significance
Select item 145627	GRCh38/hg38 17q25.3(chr17:82911614-83086677)x1	B3GNTL1, LOC121852957 +4 more	Copy number loss	See cases	GUncertain significance
Select item 57327	GRCh38/hg38 17q25.3(chr17:82962359-83086677)x3	B3GNTL1, LOC121852957 +2 more	Copy number gain	See cases	GUncertain significance
Select item 154606	GRCh38/hg38 17q25.3(chr17:82970010-83086677)x1	B3GNTL1, LOC121852957 +2 more	Copy number loss	See cases	GUncertain significance
Select item 151582	GRCh38/hg38 17q25.3(chr17:83048767-83086618)x3	B3GNTL1, METRNL	Copy number gain	See cases	GBenign
Select item 3294407	NM_001004431.3(METRNL):c.23C>T (p.Ala8Val)	METRNL (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345994	NM_001004431.3(METRNL):c.49C>G (p.Pro17Ala)	METRNL (P17A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333777	NM_001004431.3(METRNL):c.71C>T (p.Pro24Leu)	METRNL (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545961	NM_001004431.3(METRNL):c.77C>T (p.Pro26Leu)	METRNL (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372368	NM_001004431.3(METRNL):c.83C>T (p.Pro28Leu)	METRNL (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372367	NM_001004431.3(METRNL):c.128C>A (p.Ala43Glu)	METRNL (A43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125427	NM_001004431.3(METRNL):c.220C>A (p.Arg74Ser)	METRNL (R74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722975	NM_001004431.3(METRNL):c.231G>A (p.Ala77=)	METRNL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2326935	NM_001004431.3(METRNL):c.294C>G (p.Phe98Leu)	METRNL (F16L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219231	NM_001004431.3(METRNL):c.296C>T (p.Ser99Leu)	METRNL (S99L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533144	NM_001004431.3(METRNL):c.344C>T (p.Ser115Leu)	METRNL (S115L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125428	NM_001004431.3(METRNL):c.391G>T (p.Val131Leu)	METRNL (V49L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378558	NM_001004431.3(METRNL):c.400G>A (p.Gly134Arg)	METRNL (G134R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768924	NM_001004431.3(METRNL):c.425A>G (p.Gln142Arg)	METRNL (Q142R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2455928	NM_001004431.3(METRNL):c.457G>C (p.Val153Leu)	METRNL (V153L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610008	NM_001004431.3(METRNL):c.481A>G (p.Ile161Val)	METRNL (I161V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282082	NM_001004431.3(METRNL):c.484G>A (p.Gly162Ser)	METRNL (G162S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384552	NM_001004431.3(METRNL):c.511G>A (p.Glu171Lys)	METRNL (E89K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206011	NM_001004431.3(METRNL):c.520A>G (p.Arg174Gly)	METRNL (R174G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245334	NM_001004431.3(METRNL):c.533C>T (p.Ala178Val)	METRNL (A178V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411545	NM_001004431.3(METRNL):c.585G>T (p.Glu195Asp)	METRNL (E113D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294406	NM_001004431.3(METRNL):c.609C>G (p.Ser203Arg)	METRNL (S203R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313651	NM_001004431.3(METRNL):c.619G>A (p.Val207Ile)	METRNL (V125I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480099	NM_001004431.3(METRNL):c.625G>A (p.Gly209Ser)	METRNL (G127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722416	NM_001004431.3(METRNL):c.645C>A (p.Thr215=)	METRNL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346696	NM_001004431.3(METRNL):c.683G>A (p.Arg228His)	METRNL (R146H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332150	NM_001004431.3(METRNL):c.685G>A (p.Val229Met)	METRNL (V147M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282919	NM_001004431.3(METRNL):c.725C>T (p.Pro242Leu)	METRNL (P160L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778535	NM_001004431.3(METRNL):c.746A>G (p.His249Arg)	METRNL (H167R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2512166	NM_001004431.3(METRNL):c.757C>T (p.Arg253Cys)	METRNL (R253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346242	NM_001004431.3(METRNL):c.758G>A (p.Arg253His)	METRNL (R171H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125430	NM_001004431.3(METRNL):c.787C>T (p.Arg263Trp)	METRNL (R181W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243412	NM_001004431.3(METRNL):c.788G>A (p.Arg263Gln)	METRNL (R263Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382272	NM_001004431.3(METRNL):c.791C>T (p.Pro264Leu)	METRNL (P182L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125431	NM_001004431.3(METRNL):c.842G>A (p.Arg281Gln)	METRNL (R199Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548448	NM_001004431.3(METRNL):c.921G>C (p.Glu307Asp)	METRNL (E225D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516321	NM_001004431.3(METRNL):c.929C>T (p.Thr310Met)	METRNL (T310M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 1808859	GRCh37/hg19 17q25.3(chr17:80809608-81041938)x3	B3GNTL1, METRNL +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808572	GRCh37/hg19 17q25.3(chr17:80585033-81041938)x3	B3GNTL1, FN3K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1707631	GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3	B3GNTL1, FN3K +7 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 1341991	GRCh37/hg19 17q25.3(chr17:80583397-81044553)x1	B3GNTL1, FN3K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1340721	GRCh37/hg19 17q25.3(chr17:80555363-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 1340696	GRCh37/hg19 17q25.3(chr17:80787030-81041938)x3	B3GNTL1, METRNL +2 more	Copy number gain	not provided	GUncertain significance
Select item 988934	GRCh37/hg19 17q25.3(chr17:80544251-81152210)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 815956	GRCh37/hg19 17q25.3(chr17:80717487-81041938)x3	TBCD, B3GNTL1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 688719	GRCh37/hg19 17q25.3(chr17:80811894-81041938)x3	B3GNTL1, METRNL +1 more	Copy number gain	not provided	GUncertain significance
Select item 688507	GRCh37/hg19 17q25.3(chr17:80488965-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564480	GRCh37/hg19 17q25.3(chr17:80555321-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 564479	GRCh37/hg19 17q25.3(chr17:80489175-81041938)x1	ZNF750, TBCD +7 more	Copy number loss	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 442988	GRCh37/hg19 17q25.3(chr17:80558676-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	See cases	GUncertain significance
Select item 442381	GRCh37/hg19 17q25.3(chr17:80860619-81041938)x1	B3GNTL1, METRNL +1 more	Copy number loss	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394675	GRCh37/hg19 17q25.3(chr17:81006643-81085615)x3	B3GNTL1, METRNL	Copy number gain	See cases	GLikely benign
Select item 393548	GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3	METRNL, TBCD +1 more	Copy number gain	VATER association	GLikely benign

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Items: 87