"Ambry Genetics"[submitter] AND "LOC130006196"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137398	NM_001166222.2(CARNS1):c.1482C>A (p.Asp494Glu)	CARNS1, LOC130006196 (D371E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285977	NM_001166222.2(CARNS1):c.1483G>A (p.Glu495Lys)	CARNS1, LOC130006196 (E495K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612339	NM_001166222.2(CARNS1):c.1520G>T (p.Arg507Leu)	CARNS1, LOC130006196 (R384L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408941	NM_001166222.2(CARNS1):c.1547G>C (p.Gly516Ala)	CARNS1, LOC130006196 (G393A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263339	NM_001166222.2(CARNS1):c.1559T>C (p.Leu520Pro)	CARNS1, LOC130006196 (L397P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489571	NM_001166222.2(CARNS1):c.1592T>C (p.Phe531Ser)	CARNS1, LOC130006196 (F408S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606056	NM_001166222.2(CARNS1):c.1607C>T (p.Ala536Val)	CARNS1, LOC130006196 (A536V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263333	NM_001166222.2(CARNS1):c.1612G>A (p.Asp538Asn)	CARNS1, LOC130006196 (D415N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248871	NM_001166222.2(CARNS1):c.1621C>A (p.Leu541Ile)	CARNS1, LOC130006196 (L511I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance