3308[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2326686	NM_001971.6(CELA1):c.730G>A (p.Val244Ile)	CELA1 (V244I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217206	NM_001971.6(CELA1):c.715A>G (p.Thr239Ala)	CELA1 (T239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681714	NM_001971.6(CELA1):c.690G>A (p.Arg230=)	CELA1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2536677	NM_001971.6(CELA1):c.662A>G (p.His221Arg)	CELA1 (H221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400585	NM_001971.6(CELA1):c.643A>G (p.Asn215Asp)	CELA1 (N215D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141907	NM_001971.6(CELA1):c.613G>A (p.Asp205Asn)	CELA1 (D205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141906	NM_001971.6(CELA1):c.599C>G (p.Ser200Cys)	CELA1 (S200C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372738	NM_001971.6(CELA1):c.596G>A (p.Arg199His)	CELA1 (R199H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265707	NM_001971.6(CELA1):c.521C>T (p.Ala174Val)	CELA1 (A174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400584	NM_001971.6(CELA1):c.505C>A (p.Pro169Thr)	CELA1 (P169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400583	NM_001971.6(CELA1):c.469G>A (p.Gly157Arg)	CELA1 (G157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355236	NM_001971.6(CELA1):c.337G>A (p.Ala113Thr)	CELA1 (A113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141905	NM_001971.6(CELA1):c.298T>C (p.Tyr100His)	CELA1 (Y100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381657	NM_001971.6(CELA1):c.275T>C (p.Val92Ala)	CELA1 (V92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518207	NM_001971.6(CELA1):c.268G>A (p.Val90Met)	CELA1 (V90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400582	NM_001971.6(CELA1):c.265T>C (p.Tyr89His)	CELA1 (Y89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141904	NM_001971.6(CELA1):c.217G>A (p.Val73Met)	CELA1 (V73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591072	NM_001971.6(CELA1):c.215G>A (p.Arg72His)	CELA1 (R72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467788	NM_001971.6(CELA1):c.203A>G (p.Gln68Arg)	CELA1 (Q68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295059	NM_001971.6(CELA1):c.196G>A (p.Asp66Asn)	CELA1 (D66N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141903	NM_001971.6(CELA1):c.152C>A (p.Thr51Asn)	CELA1 (T51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402530	NM_001971.6(CELA1):c.9_10insG (p.Leu4fs)	CELA1 (L4fs)	Insertion (frameshift variant)	not specified	GBenign
Select item 402531	NM_001971.6(CELA1):c.7_8del (p.Val3fs)	CELA1 (V3fs)	Deletion (frameshift variant)	not specified	GBenign
Select item 563940	GRCh37/hg19 12q13.12-13.13(chr12:51361462-51751521)x3	GALNT6, SLC11A2 +9 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 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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 31