ClinVar for MedGen (Select 413474) - ClinVar

Links from MedGen

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2581477	NM_001034850.3(RETREG1):c.34G>T (p.Glu12Ter)	LOC129993734, RETREG1 +1 more (E12*)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GPathogenic
Select item 2497670	NM_001034850.3(RETREG1):c.102del (p.Ala35fs)	LOC129993734, RETREG1 +1 more (A35fs)	Deletion (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GPathogenic
Select item 2428731	NM_001034850.3(RETREG1):c.775G>T (p.Glu259Ter)	RETREG1 (E118* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory and autonomic, type 2B	GLikely pathogenic
Select item 2063604	NM_001034850.3(RETREG1):c.321G>C (p.Trp107Cys)	RETREG1 (W107C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GUncertain significance
Select item 1943097	NM_001034850.3(RETREG1):c.631G>A (p.Gly211Arg)	RETREG1 (G211R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GUncertain significance
Select item 1297384	NM_001034850.3(RETREG1):c.1001-17T>C	RETREG1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GBenign
Select item 1033223	NM_001034850.3(RETREG1):c.55G>T (p.Ala19Ser)	LOC129993734, RETREG1 +1 more (A19S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 915376	NM_001034850.3(RETREG1):c.458+2T>C	RETREG1	Single nucleotide variant (splice donor variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GPathogenic
Select item 907926	NM_001034850.3(RETREG1):c.10C>T (p.Pro4Ser)	LOC129993734, RETREG1 +1 more (P4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 907865	NM_001034850.3(RETREG1):c.*219A>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 907864	NM_001034850.3(RETREG1):c.*235C>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GBenign
Select item 906953	NM_001034850.3(RETREG1):c.94G>C (p.Ala32Pro)	LOC129993734, RETREG1 +1 more (A32P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 906952	NM_001034850.3(RETREG1):c.160G>A (p.Gly54Arg)	LOC129993734, RETREG1 +1 more (G54R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 906951	NM_001034850.3(RETREG1):c.264C>T (p.Ser88=)	RETREG1, RETREG1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906950	NM_001034850.3(RETREG1):c.295T>C (p.Phe99Leu)	RETREG1, RETREG1-AS1 (F99L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 906876	NM_001034850.3(RETREG1):c.*510A>T	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 906875	NM_001034850.3(RETREG1):c.*581T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 906874	NM_001034850.3(RETREG1):c.*757G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905346	NM_001034850.3(RETREG1):c.670+8T>C	RETREG1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905278	NM_001034850.3(RETREG1):c.*1026T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GLikely benign
Select item 905277	NM_001034850.3(RETREG1):c.*1035T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905276	NM_001034850.3(RETREG1):c.*1169G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905275	NM_001034850.3(RETREG1):c.*1235T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 905274	NM_001034850.3(RETREG1):c.*1337A>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 904622	NM_001034850.2(RETREG1):c.-62C>A	LOC129993734, RETREG1 +1 more	Single nucleotide variant	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 904549	NM_001034850.3(RETREG1):c.900G>A (p.Glu300=)	RETREG1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GConflicting classifications of pathogenicity
Select item 904548	NM_001034850.3(RETREG1):c.953C>A (p.Thr318Asn)	RETREG1 (T318N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 904492	NM_001034850.3(RETREG1):c.*1653G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 703623	NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=)	RETREG1	Single nucleotide variant (synonymous variant)	RETREG1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 673439	NM_001034850.3(RETREG1):c.873+23T>C	RETREG1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GBenign
Select item 657530	NM_001034850.3(RETREG1):c.803G>C (p.Arg268Thr)	RETREG1 (R268T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 579199	NM_001034850.3(RETREG1):c.1169C>T (p.Thr390Met)	RETREG1 (T390M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 579164	NM_001034850.3(RETREG1):c.841A>G (p.Ser281Gly)	RETREG1 (S281G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 538138	NC_000005.9:g.(?_16616741)_(16617100_?)dup	RETREG1-AS1, LOC129993734 +1 more	Duplication	not provided	GUncertain significance
Select item 538130	NM_001034850.3(RETREG1):c.999T>A (p.Asp333Glu)	RETREG1 (D333E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 538126	NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu)	LOC129993734, RETREG1 +1 more (P29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 538125	NM_001034850.3(RETREG1):c.17C>T (p.Pro6Leu)	LOC129993734, RETREG1 +1 more (P6L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +2 more	GUncertain significance
Select item 538124	NM_001034850.3(RETREG1):c.22G>C (p.Glu8Gln)	LOC129993734, RETREG1 +1 more (E8Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 518360	NM_001034850.3(RETREG1):c.1000+20G>T	RETREG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 509333	NM_001034850.3(RETREG1):c.339A>G (p.Pro113=)	RETREG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 470689	NM_001034850.3(RETREG1):c.1418C>G (p.Thr473Arg)	RETREG1 (T473R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GUncertain significance
Select item 380792	NM_001034850.3(RETREG1):c.459-25093T>C	RETREG1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 379338	NM_001034850.3(RETREG1):c.380G>A (p.Arg127His)	RETREG1 (R127H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 377837	NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys)	RETREG1 (R127C)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 352699	NM_001034850.3(RETREG1):c.6G>A (p.Ala2=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2B	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 352697	NM_001034850.3(RETREG1):c.22G>A (p.Glu8Lys)	LOC129993734, RETREG1 +1 more (E8K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 352695	NM_001034850.3(RETREG1):c.321-10G>A	RETREG1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352694	NM_001034850.3(RETREG1):c.438G>A (p.Leu146=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 352693	NM_001034850.3(RETREG1):c.442A>G (p.Arg148Gly)	RETREG1 (R148G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352692	NM_001034850.3(RETREG1):c.723A>G (p.Lys241=)	RETREG1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GConflicting classifications of pathogenicity
Select item 352691	NM_001034850.3(RETREG1):c.796C>T (p.Arg266Cys)	RETREG1 (R266C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 352690	NM_001034850.3(RETREG1):c.808+6T>C	RETREG1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GUncertain significance
Select item 352689	NM_001034850.3(RETREG1):c.816C>T (p.Asp272=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 352687	NM_001034850.3(RETREG1):c.1013C>T (p.Pro338Leu)	RETREG1 (P338L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 352686	NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 352685	NM_001034850.3(RETREG1):c.1300C>G (p.Gln434Glu)	RETREG1 (Q434E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352682	NM_001034850.3(RETREG1):c.*123T>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352681	NM_001034850.3(RETREG1):c.*206A>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 352679	NM_001034850.3(RETREG1):c.*498G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352678	NM_001034850.3(RETREG1):c.*592G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GBenign
Select item 352677	NM_001034850.3(RETREG1):c.*853G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352676	NM_001034850.3(RETREG1):c.*913G>T	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352675	NM_001034850.3(RETREG1):c.*1012G>A	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GBenign
Select item 352674	NM_001034850.3(RETREG1):c.*1160T>C	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 352673	NM_001034850.3(RETREG1):c.*1170A>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GLikely benign
Select item 352672	NM_001034850.3(RETREG1):c.*1641A>G	RETREG1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B	GUncertain significance
Select item 286856	NM_001034850.3(RETREG1):c.-19T>C	LOC129993734, RETREG1 +1 more	Single nucleotide variant (5 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GBenign
Select item 245600	NM_001034850.3(RETREG1):c.607G>A (p.Val203Met)	RETREG1 (V203M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 203444	NM_001034850.3(RETREG1):c.826del (p.Ser276fs)	RETREG1 (S276fs +1 more)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 2 +2 more	GConflicting classifications of pathogenicity
Select item 137274	NM_001034850.3(RETREG1):c.603T>C (p.Cys201=)	RETREG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 21259	NM_001034850.3(RETREG1):c.873+2T>C	RETREG1	Single nucleotide variant (splice donor variant)	Neuropathy, hereditary sensory and autonomic, type 2B +2 more	GConflicting classifications of pathogenicity
Select item 21257	NM_001034850.3(RETREG1):c.18_19del (p.Pro7fs)	LOC129993734, RETREG1 +1 more (P7fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 21256	NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr)	RETREG1 (S382T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +2 more	GBenign
Select item 21255	NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu)	RETREG1 (Q379E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 330	NM_001034850.3(RETREG1):c.433C>T (p.Gln145Ter)	RETREG1 (Q145*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 328	NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)	RETREG1 (S309* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory and autonomic, type 2B +1 more	GPathogenic

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Items: 77