ClinVar for Gene (Select 55711) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3277695	NM_001271783.2(FAR2):c.1148G>C (p.Arg383Pro)	FAR2 (R286P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092864	NM_001271783.2(FAR2):c.1523G>C (p.Arg508Thr)	FAR2 (R411T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092863	NM_001271783.2(FAR2):c.136C>A (p.Pro46Thr)	FAR2 (P46T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092862	NM_001271783.2(FAR2):c.130G>A (p.Val44Met)	FAR2 (V44M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092861	NM_001271783.2(FAR2):c.1190G>A (p.Arg397Gln)	FAR2 (R300Q +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 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3063241	GRCh37/hg19 12p11.22(chr12:28911900-29511593)x3	ERGIC2, FAR2	Copy number gain	not specified	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2607157	NM_001271783.2(FAR2):c.139A>G (p.Lys47Glu)	FAR2 (K47E)	Single nucleotide variant (missense variant +1 more)	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 2554757	NM_001271783.2(FAR2):c.1468C>G (p.Arg490Gly)	FAR2 (R490G +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 2496116	NM_001271783.2(FAR2):c.1351G>T (p.Ala451Ser)	FAR2 (A354S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
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 2389690	NM_001271783.2(FAR2):c.1208C>T (p.Thr403Met)	FAR2 (T403M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371049	NM_001271783.2(FAR2):c.1168A>G (p.Met390Val)	FAR2 (M390V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321645	NM_001271783.2(FAR2):c.166G>A (p.Val56Ile)	FAR2 (V56I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320779	NM_001271783.2(FAR2):c.28G>A (p.Gly10Ser)	FAR2 (G10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316999	NM_001271783.2(FAR2):c.1256G>A (p.Arg419Lys)	FAR2 (R322K +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 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 1808455	GRCh37/hg19 12p11.22(chr12:28911901-29518739)x3	ERGIC2, FAR2	Copy number gain	not provided	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 791498	NM_001271783.2(FAR2):c.769-8C>T	FAR2, LOC100506606	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 744520	NM_001271783.2(FAR2):c.1293G>A (p.Leu431=)	FAR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686992	GRCh37/hg19 12p11.22(chr12:29274700-29458694)x1	FAR2	Copy number loss	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563912	GRCh37/hg19 12p11.22(chr12:29426826-29630386)x3	OVCH1, FAR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 393838	GRCh37/hg19 12p11.22(chr12:29056626-29766989)x0	FAR2, ERGIC2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 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 153124	GRCh38/hg38 12p11.22(chr12:28942339-29418625)x3	ERGIC2, FAR2 +9 more	Copy number gain	See cases	GUncertain significance
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 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 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 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 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 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59706	GRCh38/hg38 12p11.22(chr12:28856455-29343246)x3	ERGIC2, FAR2 +8 more	Copy number gain	See cases	GBenign

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Links from Gene

Items: 64