"Ambry Genetics"[submitter] AND "FAM220A"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2399352	NM_001037163.2(FAM220A):c.743A>G (p.Gln248Arg)	FAM220A, SMIM10L3 (Q248R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2236584	NM_001037163.2(FAM220A):c.683A>G (p.Lys228Arg)	FAM220A, SMIM10L3 (K228R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2232306	NM_001037163.2(FAM220A):c.596A>G (p.Tyr199Cys)	FAM220A, SMIM10L3 (Y199C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2216645	NM_001037163.2(FAM220A):c.557C>G (p.Ala186Gly)	FAM220A, SMIM10L3 (A186G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295222	NM_001037163.2(FAM220A):c.485C>T (p.Pro162Leu)	FAM220A, SMIM10L3 (P162L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2259926	NM_001037163.2(FAM220A):c.448C>T (p.Pro150Ser)	FAM220A, SMIM10L3 (P150S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2234367	NM_001037163.2(FAM220A):c.254A>G (p.Tyr85Cys)	FAM220A, SMIM10L3 (Y85C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213256	NM_001037163.2(FAM220A):c.220C>T (p.Leu74Phe)	FAM220A, SMIM10L3 (L74F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance