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

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

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 145805	GRCh38/hg38 7q34(chr7:142620494-142732123)x1	LOC121201615, LOC123956253 +9 more	Copy number loss	See cases	GBenign
Select item 36703	NM_002769.4(PRSS1):c.-30_-28delTCC	PRSS1, TRB	Microsatellite	not specified +2 more	GBenign/Likely benign
Select item 569101	NM_002769.5(PRSS1):c.38C>T (p.Ala13Val)	PRSS1, TRB (A13V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 38363	NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)	PRSS1, TRB (A16V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2663057	NM_002769.5(PRSS1):c.149G>T (p.Gly50Val)	PRSS1, TRB (G50V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 11880	NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys)	PRSS1, TRB (E79K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GUncertain significance
Select item 1320647	NM_002769.5(PRSS1):c.277A>T (p.Ile93Phe)	PRSS1, TRB (I93F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 11885	NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr)	PRSS1, TRB (A121T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GUncertain significance
Select item 11883	NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)	PRSS1, TRB (R122C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 11876	NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	PRSS1, TRB (R122H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GPathogenic
Select item 459184	NM_002769.5(PRSS1):c.410C>T (p.Thr137Met)	PRSS1, TRB (T137M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 239391	NM_002769.5(PRSS1):c.486T>C (p.Asp162=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 518381	NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu)	PRSS1, TRB (K170E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 258800	NM_002769.5(PRSS1):c.592-11C>T	PRSS1, TRB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 416610	NM_002769.5(PRSS1):c.592-8C>T	PRSS1, TRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 258803	NM_002769.5(PRSS1):c.738T>C (p.Asn246=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20