"GeneDx"[submitter] AND "FITM2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1272963	NM_001080472.4(FITM2):c.*131T>C	FITM2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1049130	NM_001080472.4(FITM2):c.773A>G (p.Asp258Gly)	FITM2 (D258G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3342399	NM_001080472.4(FITM2):c.698C>T (p.Thr233Ile)	FITM2 (T233I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 692232	NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg)	FITM2 (G232R)	Single nucleotide variant (missense variant)	Siddiqi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1697128	NM_001080472.4(FITM2):c.353C>T (p.Thr118Met)	FITM2 (T118M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678796	NM_001080472.4(FITM2):c.174-198TAAA[7]	FITM2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1262098	NM_001080472.4(FITM2):c.173+190A>C	FITM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712064	NM_001080472.4(FITM2):c.173+34C>G	FITM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303579	NM_001080472.4(FITM2):c.146T>A (p.Leu49His)	FITM2 (L49H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034887	NM_001080472.4(FITM2):c.116A>G (p.Lys39Arg)	FITM2 (K39R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1320649	NM_001080472.4(FITM2):c.96G>A (p.Met32Ile)	FITM2 (M32I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2310297	NM_001080472.4(FITM2):c.50G>A (p.Arg17Gln)	FITM2 (R17Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372639	NM_001080472.4(FITM2):c.-3G>T	FITM2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1278764	NC_000020.11:g.44311245T>A	FITM2	Single nucleotide variant	not provided	GBenign