ClinVar for Gene (Select 51290) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276332	NM_016570.3(ERGIC2):c.1108C>T (p.Pro370Ser)	ERGIC2 (P370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276331	NM_016570.3(ERGIC2):c.685A>T (p.Ile229Phe)	ERGIC2 (I229F)	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 3090160	NM_016570.3(ERGIC2):c.848C>A (p.Ala283Glu)	ERGIC2 (A283E)	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 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 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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
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 2602174	NM_016570.3(ERGIC2):c.784A>G (p.Lys262Glu)	ERGIC2 (K262E)	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 2493396	NM_016570.3(ERGIC2):c.1060C>T (p.Pro354Ser)	ERGIC2 (P354S)	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 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
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 2373528	NM_016570.3(ERGIC2):c.938A>G (p.Gln313Arg)	ERGIC2 (Q313R)	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 2331605	NM_016570.3(ERGIC2):c.263A>T (p.Tyr88Phe)	ERGIC2 (Y88F)	Single nucleotide variant (missense variant)	not specified	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 2319310	NM_016570.3(ERGIC2):c.322G>C (p.Val108Leu)	ERGIC2 (V108L)	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 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	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 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)	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 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	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	FERRY3, FGD4 +4837 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 57