ClinVar for Gene (Select 54463) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369957	NM_001034850.3(RETREG1):c.863T>C (p.Leu288Pro)	RETREG1 (L147P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343257	NM_001034850.3(RETREG1):c.1229G>A (p.Ser410Asn)	RETREG1 (S269N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3313757	NM_001034850.3(RETREG1):c.1166A>C (p.Glu389Ala)	RETREG1 (E248A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313756	NM_001034850.3(RETREG1):c.1076C>A (p.Thr359Lys)	RETREG1 (T359K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153133	NM_001034850.3(RETREG1):c.66G>C (p.Gln22His)	LOC129993734, RETREG1 +1 more (Q22H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153132	NM_001034850.3(RETREG1):c.148G>A (p.Ala50Thr)	LOC129993734, RETREG1 +1 more (A50T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153131	NM_001034850.3(RETREG1):c.1054T>G (p.Ser352Ala)	RETREG1 (S211A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 3023001	NM_001034850.3(RETREG1):c.924C>G (p.Val308=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973385	NM_001034850.3(RETREG1):c.300C>T (p.Val100=)	RETREG1, RETREG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954565	NM_001034850.3(RETREG1):c.1138T>C (p.Leu380=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913459	NM_001034850.3(RETREG1):c.808+10G>A	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912374	NM_001034850.3(RETREG1):c.1467C>T (p.Phe489=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899082	NM_001034850.3(RETREG1):c.330A>G (p.Ala110=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883755	NM_001034850.3(RETREG1):c.216C>T (p.Leu72=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883683	NM_001034850.3(RETREG1):c.874-11T>C	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868966	NM_001034850.3(RETREG1):c.808+13T>G	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866382	NM_001034850.3(RETREG1):c.228G>A (p.Val76=)	RETREG1-AS1, RETREG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2862545	NM_001034850.3(RETREG1):c.33G>A (p.Glu11=)	RETREG1, RETREG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851240	NM_001034850.3(RETREG1):c.102C>G (p.Pro34=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850196	NM_001034850.3(RETREG1):c.874-15T>C	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846094	NM_001034850.3(RETREG1):c.975C>T (p.Tyr325=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845473	NM_001034850.3(RETREG1):c.873+10G>C	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841790	NM_001034850.3(RETREG1):c.792G>A (p.Lys264=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792448	NM_001034850.3(RETREG1):c.320+16A>T	RETREG1, RETREG1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788964	NM_001034850.3(RETREG1):c.321-1G>A	RETREG1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2778470	NM_001034850.3(RETREG1):c.427+17T>G	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2738380	NM_001034850.3(RETREG1):c.820_823del (p.Glu274fs)	RETREG1 (E274fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2732515	NM_001034850.3(RETREG1):c.183G>A (p.Ala61=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722694	NM_001034850.3(RETREG1):c.1320C>T (p.Ala440=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2599476	NM_001034850.3(RETREG1):c.71C>G (p.Pro24Arg)	LOC129993734, RETREG1 +1 more (P24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2579727	NM_001034850.3(RETREG1):c.486T>G (p.Asp162Glu)	RETREG1 (D162E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569977	NM_001034850.3(RETREG1):c.884C>T (p.Thr295Met)	RETREG1 (T295M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551402	NM_001034850.3(RETREG1):c.788A>C (p.Gln263Pro)	RETREG1 (Q263P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550646	NM_001034850.3(RETREG1):c.469A>G (p.Ile157Val)	RETREG1 (I16V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516293	NM_001034850.3(RETREG1):c.703T>C (p.Cys235Arg)	RETREG1 (C235R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2495765	NM_001034850.3(RETREG1):c.1315G>A (p.Ala439Thr)	RETREG1 (A298T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446724	GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3	BASP1, RETREG1 +19 more	Copy number gain	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	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 2417844	NM_001034850.3(RETREG1):c.968A>T (p.Glu323Val)	RETREG1 (E182V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2402576	NM_001034850.3(RETREG1):c.14C>G (p.Ala5Gly)	LOC129993734, RETREG1 +1 more (A5G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402575	NM_001034850.3(RETREG1):c.13G>A (p.Ala5Thr)	LOC129993734, RETREG1 +1 more (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318659	NM_001034850.3(RETREG1):c.1237G>A (p.Ala413Thr)	RETREG1 (A272T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315370	NM_001034850.3(RETREG1):c.458+3A>G	RETREG1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2265861	NM_001034850.3(RETREG1):c.83C>A (p.Pro28Gln)	LOC129993734, RETREG1 +1 more (P28Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246055	NM_001034850.3(RETREG1):c.161G>A (p.Gly54Glu)	LOC129993734, RETREG1 +1 more (G54E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244652	NM_001034850.3(RETREG1):c.77C>T (p.Ser26Leu)	LOC129993734, RETREG1 +1 more (S26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237391	NM_001034850.3(RETREG1):c.389T>C (p.Met130Thr)	RETREG1 (M130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234791	NM_001034850.3(RETREG1):c.574A>C (p.Ser192Arg)	RETREG1 (S192R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184649	NM_001034850.3(RETREG1):c.1000+20G>C	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2183431	NM_001034850.3(RETREG1):c.1392T>C (p.Asp464=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175594	NM_001034850.3(RETREG1):c.120G>A (p.Gln40=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174063	NM_001034850.3(RETREG1):c.366C>T (p.Val122=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172968	NM_001034850.3(RETREG1):c.570G>A (p.Gln190=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172664	NM_001034850.3(RETREG1):c.348A>G (p.Val116=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155717	NM_001034850.3(RETREG1):c.1000+15C>T	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2151868	NM_001034850.3(RETREG1):c.428-19T>C	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2146829	NM_001034850.3(RETREG1):c.586-8A>G	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2146037	NM_001034850.3(RETREG1):c.44C>G (p.Pro15Arg)	LOC129993734, RETREG1 +1 more (P15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144446	NM_001034850.3(RETREG1):c.15G>A (p.Ala5=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138907	NM_001034850.3(RETREG1):c.188G>T (p.Arg63Leu)	LOC129993734, RETREG1 +1 more (R63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127536	NM_001034850.3(RETREG1):c.220G>A (p.Glu74Lys)	LOC129993734, RETREG1 +1 more (E74K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126214	NM_001034850.3(RETREG1):c.377G>A (p.Gly126Glu)	RETREG1 (G126E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096446	NM_001034850.3(RETREG1):c.363C>G (p.Ser121=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088448	NM_001034850.3(RETREG1):c.12G>T (p.Pro4=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084771	NM_001034850.3(RETREG1):c.874-3C>T	RETREG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2084341	NM_001034850.3(RETREG1):c.340T>C (p.Trp114Arg)	RETREG1 (W114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078198	NM_001034850.3(RETREG1):c.21G>A (p.Pro7=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075853	NM_001034850.3(RETREG1):c.922G>A (p.Val308Ile)	RETREG1 (V167I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2074008	NM_001034850.3(RETREG1):c.1170G>A (p.Thr390=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2061696	NM_001034850.3(RETREG1):c.767G>A (p.Gly256Glu)	RETREG1 (G256E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049214	NM_001034850.3(RETREG1):c.670+20T>C	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2041910	NM_001034850.3(RETREG1):c.78GCC[3] (p.Pro30_Gln31insPro)	LOC129993734, RETREG1 +1 more	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2030528	NM_001034850.3(RETREG1):c.558T>C (p.Ser186=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028083	NM_001034850.3(RETREG1):c.808+16A>G	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023882	NM_001034850.3(RETREG1):c.649G>C (p.Val217Leu)	RETREG1 (V76L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022481	NM_001034850.3(RETREG1):c.907G>A (p.Val303Met)	RETREG1 (V303M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998558	NM_001034850.3(RETREG1):c.808+4G>C	RETREG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1997282	NM_001034850.3(RETREG1):c.654A>T (p.Ile218=)	RETREG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973834	NM_001034850.3(RETREG1):c.586-4C>A	RETREG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973162	NM_001034850.3(RETREG1):c.505C>T (p.His169Tyr)	RETREG1 (H28Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972627	NM_001034850.3(RETREG1):c.805T>A (p.Ser269Thr)	RETREG1 (S128T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969884	NM_001034850.3(RETREG1):c.538A>G (p.Ile180Val)	RETREG1 (I180V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963025	NM_001034850.3(RETREG1):c.403G>C (p.Asp135His)	RETREG1 (D135H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957992	NM_001034850.3(RETREG1):c.250G>A (p.Asp84Asn)	RETREG1, RETREG1-AS1 (D84N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1950366	NM_001034850.3(RETREG1):c.279G>A (p.Leu93=)	RETREG1, RETREG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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