"Ambry Genetics"[submitter] AND "LOC130006195"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137396	NM_001166222.2(CARNS1):c.1142G>T (p.Arg381Leu)	CARNS1, LOC130006195 (R258L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299586	NM_001166222.2(CARNS1):c.1145C>T (p.Pro382Leu)	CARNS1, LOC130006195 (P382L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137397	NM_001166222.2(CARNS1):c.1169C>T (p.Pro390Leu)	CARNS1, LOC130006195 (P390L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317180	NM_001166222.2(CARNS1):c.1231G>C (p.Val411Leu)	CARNS1, LOC130006195 (V381L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263344	NM_001166222.2(CARNS1):c.1258G>C (p.Glu420Gln)	CARNS1, LOC130006195 (E420Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532458	NM_001166222.2(CARNS1):c.1378G>A (p.Val460Met)	CARNS1, LOC130006195 (V337M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263343	NM_001166222.2(CARNS1):c.1443G>C (p.Glu481Asp)	CARNS1, LOC130006195 (E451D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396589	NM_001166222.2(CARNS1):c.1450T>G (p.Trp484Gly)	CARNS1, LOC130006195 (W361G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance