ClinVar for Gene (Select 92840) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046596	NM_138393.4(REEP6):c.30C>T (p.His10=)	REEP6	Single nucleotide variant (synonymous variant)	REEP6-related condition	GLikely benign
Select item 3023182	NM_138393.4(REEP6):c.518-8C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002672	NM_138393.4(REEP6):c.312A>T (p.Leu104=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002031	NM_138393.4(REEP6):c.543G>A (p.Pro181=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987277	NM_138393.4(REEP6):c.115+7C>G	LOC130062963, REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969604	NM_138393.4(REEP6):c.450C>T (p.Ala150=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963558	NM_138393.4(REEP6):c.352G>A (p.Ala118Thr)	REEP6 (A118T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2962640	NM_138393.4(REEP6):c.147G>A (p.Leu49=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844262	NM_138393.4(REEP6):c.438G>A (p.Arg146=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841419	NM_138393.4(REEP6):c.209+13C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833867	NM_138393.4(REEP6):c.517+18C>G	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803907	NM_138393.4(REEP6):c.136C>T (p.Leu46=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786050	NM_138393.4(REEP6):c.421C>G (p.Arg141Gly)	REEP6 (R141G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783165	NM_138393.4(REEP6):c.210-7C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776268	NM_138393.4(REEP6):c.209+7G>A	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772969	NM_138393.4(REEP6):c.534C>G (p.Thr178=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759924	NM_138393.4(REEP6):c.450C>G (p.Ala150=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754708	NM_138393.4(REEP6):c.447G>C (p.Gly149=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745329	NM_138393.4(REEP6):c.408T>A (p.Tyr136Ter)	REEP6 (Y136*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	CSNK1G2, PEAK3 +35 more	Duplication	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2424130	NC_000019.9:g.(?_1465134)_(1497210_?)dup	APC2, C19orf25 +2 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	CBARP, CIRBP +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2340345	NM_138393.4(REEP6):c.95A>G (p.Glu32Gly)	LOC130062963, REEP6 (E32G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247837	NM_138393.4(REEP6):c.25G>A (p.Glu9Lys)	REEP6 (E9K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2185065	NM_138393.4(REEP6):c.542C>T (p.Pro181Leu)	REEP6 (P181L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145030	NM_138393.4(REEP6):c.205G>A (p.Ala69Thr)	REEP6 (A69T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2142362	NM_138393.4(REEP6):c.444C>T (p.His148=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133570	NM_138393.4(REEP6):c.-7_23del (p.Met1_Val8del)	LOC130062962, REEP6	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2129757	NM_138393.4(REEP6):c.518-16G>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113969	NM_138393.4(REEP6):c.105T>C (p.Tyr35=)	LOC130062963, REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110164	NM_001329556.3(REEP6):c.569C>T (p.Ala190Val)	REEP6 (A190V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2109317	NM_138393.4(REEP6):c.240C>T (p.Asp80=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103345	NM_138393.4(REEP6):c.485C>T (p.Ala162Val)	REEP6 (A162V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097150	NM_138393.4(REEP6):c.395C>T (p.Ala132Val)	REEP6 (A132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093944	NM_001329556.3(REEP6):c.559del (p.Val187fs)	REEP6 (V187fs)	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 2084980	NM_138393.4(REEP6):c.169C>T (p.Leu57=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081608	NM_138393.4(REEP6):c.261C>G (p.Thr87=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075789	NM_138393.4(REEP6):c.456C>G (p.Asp152Glu)	REEP6 (D152E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058474	NM_138393.4(REEP6):c.116-16C>G	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2057838	NM_138393.4(REEP6):c.517+128C>T	REEP6	Single nucleotide variant (intron variant)	REEP6-related condition +1 more	GLikely benign
Select item 2043925	NM_138393.4(REEP6):c.517+5G>T	REEP6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2039680	NM_138393.4(REEP6):c.328C>T (p.Pro110Ser)	REEP6 (P110S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036257	NM_138393.4(REEP6):c.195C>G (p.Tyr65Ter)	REEP6 (Y65*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2014094	NM_138393.4(REEP6):c.115+20C>A	LOC130062963, REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013306	NM_138393.4(REEP6):c.358C>A (p.Leu120Met)	REEP6 (L120M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013123	NM_138393.4(REEP6):c.103T>C (p.Tyr35His)	LOC130062963, REEP6 (Y35H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010306	NM_138393.4(REEP6):c.440A>G (p.His147Arg)	REEP6 (H147R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000735	NM_138393.4(REEP6):c.203A>G (p.Tyr68Cys)	REEP6 (Y68C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998768	NM_138393.4(REEP6):c.517+236G>A	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995539	NM_138393.4(REEP6):c.517+19C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994173	NM_138393.4(REEP6):c.69G>T (p.Gly23=)	LOC130062963, REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991328	NM_138393.4(REEP6):c.161C>T (p.Ala54Val)	REEP6 (A54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985162	NM_138393.4(REEP6):c.198C>T (p.Pro66=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975807	NM_138393.4(REEP6):c.209+8C>T	REEP6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1969657	NM_138393.4(REEP6):c.222C>T (p.Ile74=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967616	NM_138393.4(REEP6):c.542C>G (p.Pro181Arg)	REEP6 (P181R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1964185	NM_001329556.3(REEP6):c.534C>T (p.Ala178=)	REEP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1955271	NM_138393.4(REEP6):c.215A>G (p.Lys72Arg)	REEP6 (K72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952251	NM_138393.4(REEP6):c.536C>T (p.Pro179Leu)	REEP6 (P206L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944227	NM_138393.4(REEP6):c.349-17C>A	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937086	NM_138393.4(REEP6):c.210-3C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1926960	NM_138393.4(REEP6):c.552G>C (p.Lys184Asn)	REEP6 (K211N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925073	NM_138393.4(REEP6):c.447G>A (p.Gly149=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924093	NM_138393.4(REEP6):c.277G>A (p.Ala93Thr)	REEP6 (A93T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916614	NM_138393.4(REEP6):c.156C>T (p.Tyr52=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910218	NM_138393.4(REEP6):c.493G>A (p.Ala165Thr)	REEP6 (A165T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1906384	NM_001329556.3(REEP6):c.570C>T (p.Ala190=)	REEP6	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1902234	NM_138393.4(REEP6):c.451G>A (p.Val151Ile)	REEP6 (V151I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1808976	GRCh37/hg19 19p13.3(chr19:1356893-1676446)x1	ADAMTSL5, APC2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1714684	NM_138393.4(REEP6):c.101G>C (p.Arg34Pro)	LOC130062963, REEP6 (R34P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713947	NM_138393.4(REEP6):c.176A>T (p.Asn59Ile)	REEP6 (N59I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1669124	NM_138393.4(REEP6):c.518-17C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663058	NM_138393.4(REEP6):c.115+20_115+21delinsTG	LOC130062963, REEP6	Indel (intron variant)	not provided	GLikely benign
Select item 1658862	NM_138393.4(REEP6):c.306C>T (p.Ser102=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656958	NM_138393.4(REEP6):c.517+17G>A	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655650	NM_138393.4(REEP6):c.517+123G>A	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649725	NM_138393.4(REEP6):c.116-20C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641830	NM_138393.4(REEP6):c.204T>C (p.Tyr68=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640928	NM_138393.4(REEP6):c.501C>T (p.Ala167=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640766	NM_138393.4(REEP6):c.495G>A (p.Ala165=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640061	NM_138393.4(REEP6):c.45G>A (p.Arg15=)	LOC130062963, REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635562	NM_138393.4(REEP6):c.517+11G>A	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634606	NM_138393.4(REEP6):c.518-17C>G	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627310	NM_138393.4(REEP6):c.390C>T (p.Asn130=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623999	NM_138393.4(REEP6):c.517+8C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615092	NM_138393.4(REEP6):c.349-18T>G	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587582	NM_138393.4(REEP6):c.354C>T (p.Ala118=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587573	NM_138393.4(REEP6):c.349-9G>A	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577707	NM_138393.4(REEP6):c.468C>T (p.Asn156=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575850	NM_138393.4(REEP6):c.243C>T (p.Asp81=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565101	NM_138393.4(REEP6):c.116-13C>G	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563226	NM_138393.4(REEP6):c.115+8G>A	LOC130062963, REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553606	NM_138393.4(REEP6):c.349-9G>C	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553587	NM_138393.4(REEP6):c.517+238A>G	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign

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