ClinVar for Gene (Select 4060) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121549	NM_002345.4(LUM):c.419A>T (p.Glu140Val)	LUM (E140V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121548	NM_002345.4(LUM):c.395T>G (p.Val132Gly)	LUM (V132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044934	NM_002345.4(LUM):c.591C>T (p.Ala197=)	LUM	Single nucleotide variant (synonymous variant)	LUM-related disorder	GLikely benign
Select item 3042641	NM_002345.4(LUM):c.849C>T (p.Val283=)	LUM	Single nucleotide variant (synonymous variant)	LUM-related disorder	GBenign
Select item 3038362	NM_002345.4(LUM):c.300C>T (p.Asn100=)	LUM	Single nucleotide variant (synonymous variant)	LUM-related disorder	GLikely benign
Select item 3038149	NM_002345.4(LUM):c.222G>A (p.Arg74=)	LUM	Single nucleotide variant (synonymous variant)	LUM-related disorder	GLikely benign
Select item 2548286	NM_002345.4(LUM):c.50G>A (p.Ser17Asn)	LUM (S17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546655	NM_002345.4(LUM):c.892C>A (p.Leu298Met)	LUM (L298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520983	NM_002345.4(LUM):c.533C>T (p.Ala178Val)	LUM (A178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495308	NM_002345.4(LUM):c.973A>G (p.Met325Val)	LUM (M325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480587	NM_002345.4(LUM):c.247G>C (p.Glu83Gln)	LUM (E83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467481	NM_002345.4(LUM):c.166C>A (p.Leu56Met)	LUM (L56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387753	NM_002345.4(LUM):c.251A>C (p.Lys84Thr)	LUM (K84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385340	NM_002345.4(LUM):c.25T>C (p.Phe9Leu)	LUM (F9L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338828	NM_002345.4(LUM):c.242T>C (p.Ile81Thr)	LUM (I81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277532	NM_002345.4(LUM):c.811A>G (p.Thr271Ala)	LUM (T271A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527724	GRCh37/hg19 12q21.33-22(chr12:91073628-92829926)	BTG1, CCER1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1282615	NM_002345.4(LUM):c.-21-270_-21-269insAA	LUM	Insertion (intron variant)	not provided	GBenign
Select item 1275250	NM_002345.4(LUM):c.507T>C (p.Asn169=)	LUM	Single nucleotide variant (synonymous variant)	LUM-related disorder +1 more	GBenign
Select item 1224049	NM_002345.4(LUM):c.863-203A>T	LUM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181470	NM_002345.4(LUM):c.863-103G>A	LUM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 980450	GRCh37/hg19 12q21.33(chr12:90629021-91543515)x3	CCER1, LUM +3 more	Copy number gain	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	CCER1, ATP2B1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442370	GRCh37/hg19 12q21.33(chr12:90881837-91582957)x1	CCER1, DCN +3 more	Copy number loss	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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253789	GRCh37/hg19 12q21.33(chr12:90910083-91560392)x3	EPYC, LUM +3 more	Copy number gain	See cases	GUncertain significance
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 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 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 58230	GRCh38/hg38 12q21.33(chr12:90197297-91239004)x3	CCER1, DCN +11 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 34