Related gene-specific medical variations for Gene (Select 201191) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316087	NM_001257359.2(SAMD14):c.479G>A (p.Arg160His)	LOC130061143, SAMD14 (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316084	NM_001257359.2(SAMD14):c.452C>T (p.Ser151Phe)	LOC130061143, SAMD14 (S151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316081	NM_001257359.2(SAMD14):c.389C>T (p.Ser130Leu)	LOC130061143, SAMD14 (S130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305542	NM_002611.5(PDK2):c.1195A>G (p.Lys399Glu)	PDK2, SAMD14 (K399E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210962	NM_002611.5(PDK2):c.1213C>T (p.Arg405Cys)	PDK2, SAMD14 (R341C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3045798	NM_001257359.2(SAMD14):c.432C>T (p.Ser144=)	LOC130061143, SAMD14	Single nucleotide variant (synonymous variant)	SAMD14-related disorder	GLikely benign
Select item 2637256	NM_001257359.2(SAMD14):c.469C>G (p.Arg157Gly)	LOC130061143, SAMD14 (R157G)	Single nucleotide variant (missense variant)	SAMD14-related disorder +1 more	GUncertain significance
Select item 2398934	NM_001257359.2(SAMD14):c.478C>A (p.Arg160Ser)	LOC130061143, SAMD14 (R160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325932	NM_001257359.2(SAMD14):c.379A>C (p.Asn127His)	LOC130061143, SAMD14 (N127H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance