"PreventionGenetics, part of Exact Sciences"[submitter] AND "SAMD14"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2480550	NM_001257359.2(SAMD14):c.1225C>T (p.Arg409Cys)	SAMD14 (R437C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3029346	NM_001257359.2(SAMD14):c.1147T>C (p.Leu383=)	SAMD14	Single nucleotide variant (synonymous variant)	SAMD14-related disorder	GLikely benign
Select item 3037503	NM_001257359.2(SAMD14):c.1021G>A (p.Glu341Lys)	SAMD14 (E341K +1 more)	Single nucleotide variant (missense variant)	SAMD14-related disorder	GLikely benign
Select item 3054993	NM_001257359.2(SAMD14):c.771C>G (p.Pro257=)	SAMD14	Single nucleotide variant (synonymous variant)	SAMD14-related disorder	GLikely benign
Select item 2629512	NM_001257359.2(SAMD14):c.568C>T (p.Arg190Ter)	SAMD14 (R190*)	Single nucleotide variant (nonsense)	SAMD14-related disorder	GUncertain significance
Select item 3031865	NM_001257359.2(SAMD14):c.552C>A (p.Leu184=)	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 3045798	NM_001257359.2(SAMD14):c.432C>T (p.Ser144=)	LOC130061143, SAMD14	Single nucleotide variant (synonymous variant)	SAMD14-related disorder	GLikely benign
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