"Ambry Genetics"[submitter] AND "LOC130002310"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179263	NM_032012.4(TMEM245):c.122C>T (p.Ala41Val)	LOC130002310, TMEM245 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622942	NM_032012.4(TMEM245):c.89G>A (p.Ser30Asn)	LOC130002310, TMEM245 (S30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327013	NM_032012.4(TMEM245):c.71C>T (p.Pro24Leu)	LOC130002310, TMEM245 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316656	NM_032012.4(TMEM245):c.70C>T (p.Pro24Ser)	LOC130002310, TMEM245 (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316655	NM_032012.4(TMEM245):c.45C>G (p.Ser15Arg)	LOC130002310, TMEM245 (S15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599688	NM_032012.4(TMEM245):c.26A>C (p.Asp9Ala)	LOC130002310, TMEM245 (D9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179267	NM_032012.4(TMEM245):c.25G>A (p.Asp9Asn)	LOC130002310, TMEM245 (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273481	NM_032012.4(TMEM245):c.22A>G (p.Lys8Glu)	LOC130002310, TMEM245 (K8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179271	NM_032012.4(TMEM245):c.8A>G (p.Asp3Gly)	LOC130002310, TMEM245 (D3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance