MAP1LC3B2[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 58231	GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3	FBXO21, FBXW8 +61 more	Copy number gain	See cases	GUncertain significance
Select item 2688029	NM_001085481.3(MAP1LC3B2):c.-18G>C	MAP1LC3B2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2643372	NM_001085481.3(MAP1LC3B2):c.9G>A (p.Ser3=)	MAP1LC3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2297798	NM_001085481.3(MAP1LC3B2):c.182G>C (p.Ser61Thr)	MAP1LC3B2 (S61T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570027	NM_001085481.3(MAP1LC3B2):c.203G>C (p.Arg68Thr)	MAP1LC3B2 (R68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207195	NM_001085481.3(MAP1LC3B2):c.253G>C (p.Gly85Arg)	MAP1LC3B2 (G85R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334720	NM_001085481.3(MAP1LC3B2):c.329A>G (p.Tyr110Cys)	MAP1LC3B2 (Y110C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688190	NM_001085481.3(MAP1LC3B2):c.*12dup	MAP1LC3B2	Duplication (3 prime UTR variant)	not specified	GBenign
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 1808509	GRCh37/hg19 12q24.21-24.22(chr12:116693045-117089243)x3	MAP1LC3B2, MED13L	Copy number gain	not provided	GUncertain significance
Select item 1808305	GRCh37/hg19 12q24.21-24.22(chr12:116422123-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527739	GRCh37/hg19 12q24.22(chr12:116869761-117330856)	HRK, MAP1LC3B2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 815556	GRCh37/hg19 12q24.21-24.22(chr12:116416809-117740952)x3	MAP1LC3B2, TESC +7 more	Copy number gain	not provided	GUncertain significance
Select item 687774	GRCh37/hg19 12q24.21-24.22(chr12:116551934-117093172)x3	MAP1LC3B2, MED13L	Copy number gain	not provided	GUncertain significance
Select item 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441656	GRCh37/hg19 12q24.21-24.22(chr12:116421601-117740952)x3	HRK, MAP1LC3B2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 395069	GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1	FBXO21, FBXW8 +13 more	Copy number loss	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 24