"GeneDx"[submitter] AND "RETREG1-AS1"[gene] - ClinVar

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

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 151669	GRCh38/hg38 5p15.1(chr5:16540213-16659844)x3	LOC123493272, LOC123493273 +3 more	Copy number gain	See cases	GLikely benign
Select item 245845	NM_001034850.3(RETREG1):c.280C>G (p.Arg94Gly)	RETREG1, RETREG1-AS1 (R94G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 451834	NM_001034850.3(RETREG1):c.137A>G (p.Glu46Gly)	RETREG1-AS1, RETREG1 +1 more (E46G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 668275	NM_001034850.3(RETREG1):c.87G>T (p.Pro29=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 538126	NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu)	LOC129993734, RETREG1 +1 more (P29L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 234805	NM_001034850.3(RETREG1):c.44C>T (p.Pro15Leu)	LOC129993734, RETREG1 +1 more (P15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 515120	NM_001034850.3(RETREG1):c.42C>T (p.Cys14=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 452302	NM_001034850.3(RETREG1):c.31G>A (p.Glu11Lys)	LOC129993734, RETREG1 +1 more (E11K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 352697	NM_001034850.3(RETREG1):c.22G>A (p.Glu8Lys)	LOC129993734, RETREG1 +1 more (E8K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 470691	NM_001034850.3(RETREG1):c.19C>G (p.Pro7Ala)	LOC129993734, RETREG1 +1 more (P7A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 538125	NM_001034850.3(RETREG1):c.17C>T (p.Pro6Leu)	LOC129993734, RETREG1 +1 more (P6L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 352698	NM_001034850.3(RETREG1):c.6G>C (p.Ala2=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2B +2 more	GConflicting classifications of pathogenicity
Select item 506856	NM_001034850.3(RETREG1):c.-16G>A	LOC129993734, RETREG1 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 517803	NM_001034850.2(RETREG1):c.-27C>G	LOC129993734, RETREG1 +1 more	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 419913	NM_001034850.2(RETREG1):c.-52_-41delGCGCGCCCGCGC	LOC129993734, RETREG1 +1 more	Deletion	not specified	GLikely benign
Select item 669181	NM_001034850.2(RETREG1):c.-34C>T	RETREG1-AS1, RETREG1 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 421897	NM_001034850.2(RETREG1):c.-45_-44CG[6]	RETREG1-AS1, RETREG1 +1 more	Microsatellite	not specified	GLikely benign
Select item 506567	NM_001034850.2(RETREG1):c.-45_-44CG[4]	LOC129993734, RETREG1 +1 more	Microsatellite	not specified	GLikely benign
Select item 1208696	NC_000005.10:g.16617176A>T	LOC129993734, RETREG1 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1262203	NC_000005.10:g.16617337A>C	RETREG1, RETREG1-AS1	Single nucleotide variant	not provided	GBenign
Select item 1269233	NC_000005.10:g.16617377A>G	RETREG1, RETREG1-AS1	Single nucleotide variant	not provided	GBenign

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: 22