"GeneDx"[submitter] AND "CBR4"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 1237474	NM_001166108.2(PALLD):c.2199+277A>T	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229506	NM_001166108.2(PALLD):c.2251-55G>A	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128102	NM_001166108.2(PALLD):c.2293A>T (p.Ile765Leu)	CBR4, PALLD (I748L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128103	NM_001166108.2(PALLD):c.2356G>A (p.Val786Met)	CBR4, PALLD (V769M +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 132746	NM_001166108.2(PALLD):c.2442A>G (p.Thr814=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	Pancreatic adenocarcinoma +4 more	GBenign/Likely benign
Select item 128104	NM_001166108.2(PALLD):c.2527A>G (p.Ile843Val)	CBR4, PALLD (I826V +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 128105	NM_001166108.2(PALLD):c.2581G>C (p.Asp861His)	CBR4, PALLD (D844H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272484	NM_001166108.2(PALLD):c.2623-30C>G	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128106	NM_001166108.2(PALLD):c.2651T>C (p.Met884Thr)	CBR4, PALLD (M867T +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +2 more	GUncertain significance
Select item 348043	NM_001166108.2(PALLD):c.2679A>G (p.Arg893=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	Pancreatic adenocarcinoma +3 more	GBenign
Select item 1269251	NM_001166108.2(PALLD):c.2717+152T>G	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262341	NM_001166108.2(PALLD):c.2718-85T>C	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292388	NM_001166108.2(PALLD):c.2851-108dup	CBR4, PALLD	Duplication (intron variant)	not provided	GBenign
Select item 1282158	NM_001166108.2(PALLD):c.2851-108del	CBR4, PALLD	Deletion (intron variant)	not provided	GBenign
Select item 1260731	NM_001166108.2(PALLD):c.3058+28C>G	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279338	NM_001166108.2(PALLD):c.3058+84T>C	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257134	NM_001166108.2(PALLD):c.3058+150A>T	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233037	NM_001166108.2(PALLD):c.3224+149C>T	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 182794	NM_001166108.2(PALLD):c.3256C>T (p.Leu1086=)	PALLD, CBR4	Single nucleotide variant (synonymous variant)	Pancreatic adenocarcinoma +4 more	GBenign/Likely benign
Select item 128108	NM_001166108.2(PALLD):c.3264T>G (p.Ile1088Met)	PALLD, CBR4 (I1071M +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 128109	NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu)	CBR4, PALLD (V1084L +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 1269401	NM_001166108.2(PALLD):c.3358+26T>C	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 182795	NM_001166108.2(PALLD):c.3359-24CT[5]	PALLD, CBR4	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome	GBenign
Select item 348047	NM_001166108.2(PALLD):c.3359-4G>A	CBR4, PALLD	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1294507	NM_001166108.2(PALLD):c.*33-237del	CBR4, PALLD	Deletion (intron variant)	not provided	GBenign
Select item 348048	NM_001166108.2(PALLD):c.*325del	CBR4, PALLD	Deletion (3 prime UTR variant)	not provided +1 more	GBenign
Select item 348067	NM_001166108.2(PALLD):c.*1906G>A	CBR4, PALLD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 348069	NM_001166108.2(PALLD):c.*2058C>G	CBR4, PALLD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 348074	NM_001166108.2(PALLD):c.*2162ATCA[2]	CBR4, PALLD	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253675	GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1	TLL1, HAND2 +40 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

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Items: 33