Related gene-specific medical variations for Gene (Select 55337) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2535314	NM_031917.3(ANGPTL6):c.1363G>A (p.Ala455Thr)	ANGPTL6, SHFL (A455T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366571	NM_031917.3(ANGPTL6):c.1316G>A (p.Arg439Gln)	ANGPTL6, SHFL (R439Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2309780	NM_031917.3(ANGPTL6):c.1291G>A (p.Val431Met)	ANGPTL6, SHFL (V431M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 801418	NM_001130823.3(DNMT1):c.1619A>G (p.Tyr540Cys)	DNMT1, SHFL (Y540C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 801417	NM_001130823.3(DNMT1):c.3458_3466dup (p.Pro1153_Leu1155dup)	DNMT1, SHFL	Duplication (inframe_insertion)	Hereditary sensory neuropathy-deafness-dementia syndrome +1 more	GUncertain significance

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