51290[Gene ID] - ClinVar

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Items: 55

	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	LOC130008916, LOC130008917 +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 2321687	NM_016570.3(ERGIC2):c.1124A>G (p.Asn375Ser)	ERGIC2 (N375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482171	NM_016570.3(ERGIC2):c.1067A>G (p.Asn356Ser)	ERGIC2 (N356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493396	NM_016570.3(ERGIC2):c.1060C>T (p.Pro354Ser)	ERGIC2 (P354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090161	NM_016570.3(ERGIC2):c.968G>A (p.Gly323Glu)	ERGIC2 (G323E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373528	NM_016570.3(ERGIC2):c.938A>G (p.Gln313Arg)	ERGIC2 (Q313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090160	NM_016570.3(ERGIC2):c.848C>A (p.Ala283Glu)	ERGIC2 (A283E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681261	NM_016570.3(ERGIC2):c.814G>A (p.Val272Met)	ERGIC2 (V272M)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2602174	NM_016570.3(ERGIC2):c.784A>G (p.Lys262Glu)	ERGIC2 (K262E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623697	NM_016570.3(ERGIC2):c.715A>G (p.Ile239Val)	ERGIC2 (I239V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257761	NM_016570.3(ERGIC2):c.671A>C (p.Glu224Ala)	ERGIC2 (E224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206157	NM_016570.3(ERGIC2):c.484G>A (p.Asp162Asn)	ERGIC2 (D162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090159	NM_016570.3(ERGIC2):c.455C>T (p.Thr152Ile)	ERGIC2 (T152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090158	NM_016570.3(ERGIC2):c.454A>G (p.Thr152Ala)	ERGIC2 (T152A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319310	NM_016570.3(ERGIC2):c.322G>C (p.Val108Leu)	ERGIC2 (V108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331605	NM_016570.3(ERGIC2):c.263A>T (p.Tyr88Phe)	ERGIC2 (Y88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394703	NM_016570.3(ERGIC2):c.238A>G (p.Ile80Val)	ERGIC2 (I80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519215	NM_016570.3(ERGIC2):c.214A>G (p.Ser72Gly)	ERGIC2 (S72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351460	NM_016570.3(ERGIC2):c.145A>G (p.Ile49Val)	ERGIC2 (I49V)	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 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
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 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 563950	GRCh37/hg19 12p11.22(chr12:29496129-30000274)x1	OVCH1, ERGIC2 +1 more	Copy number loss	not provided	GUncertain significance
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	AAAS, ABCD2 +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 442144	GRCh37/hg19 12p11.22-11.21(chr12:29532369-30711970)x3	ERGIC2, OVCH1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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 394811	GRCh37/hg19 12p11.22(chr12:29494633-29628021)x3	ERGIC2, OVCH1	Copy number gain	See cases	GUncertain significance
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	AGAP2, ARF3 +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

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Items: 55