LOC100506606[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59706	GRCh38/hg38 12p11.22(chr12:28856455-29343246)x3	ERGIC2, FAR2 +8 more	Copy number gain	See cases	GBenign
Select item 153124	GRCh38/hg38 12p11.22(chr12:28942339-29418625)x3	ERGIC2, FAR2 +9 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 791498	NM_001271783.2(FAR2):c.769-8C>T	FAR2, LOC100506606	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 3092860	NM_001271783.2(FAR2):c.1073G>A (p.Arg358Gln)	FAR2, LOC100506606 (R358Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25