Related gene-specific medical variations for Gene (Select 55711) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3513035	NM_001271783.2(FAR2):c.1034A>G (p.Asn345Ser)	FAR2, LOC100506606 (N345S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513034	NM_001271783.2(FAR2):c.655A>G (p.Ser219Gly)	FAR2, LOC100506606 (S219G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3513033	NM_001271783.2(FAR2):c.1106G>A (p.Arg369Gln)	FAR2, LOC100506606 (R272Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513032	NM_001271783.2(FAR2):c.397C>T (p.Arg133Trp)	FAR2, LOC100506606 (R36W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277698	NM_001271783.2(FAR2):c.275C>T (p.Ala92Val)	FAR2, LOC100506606 (A92V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3277696	NM_001271783.2(FAR2):c.373G>A (p.Val125Met)	FAR2, LOC100506606 (V125M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092860	NM_001271783.2(FAR2):c.1073G>A (p.Arg358Gln)	FAR2, LOC100506606 (R358Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602138	NM_001271783.2(FAR2):c.847A>G (p.Asn283Asp)	FAR2, LOC100506606 (N186D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595948	NM_001271783.2(FAR2):c.409C>G (p.Leu137Val)	FAR2, LOC100506606 (L40V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569099	NM_001271783.2(FAR2):c.844G>A (p.Val282Ile)	FAR2, LOC100506606 (V185I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539661	NM_001271783.2(FAR2):c.211G>A (p.Val71Ile)	FAR2, LOC100506606 (V71I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2410946	NM_001271783.2(FAR2):c.206A>G (p.Lys69Arg)	FAR2, LOC100506606 (K69R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2393998	NM_001271783.2(FAR2):c.196G>C (p.Glu66Gln)	FAR2, LOC100506606 (E66Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2300245	NM_001271783.2(FAR2):c.620C>G (p.Thr207Ser)	FAR2, LOC100506606 (T110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297920	NM_001271783.2(FAR2):c.893A>T (p.Lys298Met)	FAR2, LOC100506606 (K298M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275370	NM_001271783.2(FAR2):c.292A>T (p.Met98Leu)	FAR2, LOC100506606 (M98L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2270313	NM_001271783.2(FAR2):c.973A>G (p.Thr325Ala)	FAR2, LOC100506606 (T228A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220584	NM_001271783.2(FAR2):c.795A>G (p.Ile265Met)	FAR2, LOC100506606 (I265M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791498	NM_001271783.2(FAR2):c.769-8C>T	FAR2, LOC100506606	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 686992	GRCh37/hg19 12p11.22(chr12:29274700-29458694)x1	FAR2	Copy number loss	not provided	GUncertain significance

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Links from Gene

Items: 20