92840[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
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 842904	NM_138393.4(REEP6):c.1A>G (p.Met1Val)	LOC130062962, REEP6 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1124757	NM_138393.4(REEP6):c.6C>T (p.Asp2=)	REEP6, LOC130062962	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1017464	NM_138393.4(REEP6):c.7G>A (p.Gly3Ser)	LOC130062962, REEP6 (G3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424115	NM_138393.4(REEP6):c.19C>A (p.Arg7Ser)	REEP6 (R7S)	Single nucleotide variant (missense variant)	not provided	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 860974	NM_138393.4(REEP6):c.27G>C (p.Glu9Asp)	REEP6 (E9D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3046596	NM_138393.4(REEP6):c.30C>T (p.His10=)	REEP6	Single nucleotide variant (synonymous variant)	REEP6-related disorder	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 1046797	NM_138393.4(REEP6):c.47A>G (p.Asn16Ser)	LOC130062963, REEP6 (N16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 834265	NM_138393.4(REEP6):c.50T>C (p.Leu17Pro)	LOC130062963, REEP6 (L17P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964902	NM_138393.4(REEP6):c.62T>C (p.Val21Ala)	LOC130062963, REEP6 (V21A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 958640	NM_138393.4(REEP6):c.71C>T (p.Ala24Val)	LOC130062963, REEP6 (A24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1016558	NM_138393.4(REEP6):c.77A>T (p.Glu26Val)	LOC130062963, REEP6 (E26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964903	NM_138393.4(REEP6):c.79G>A (p.Ala27Thr)	LOC130062963, REEP6 (A27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854112	NM_138393.4(REEP6):c.88G>C (p.Gly30Arg)	LOC130062963, REEP6 (G30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933604	NM_138393.4(REEP6):c.91G>A (p.Val31Met)	LOC130062963, REEP6 (V31M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1141100	NM_138393.4(REEP6):c.93G>T (p.Val31=)	LOC130062963, REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1059543	NM_138393.4(REEP6):c.95A>T (p.Glu32Val)	LOC130062963, REEP6 (E32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009115	NM_138393.4(REEP6):c.96G>T (p.Glu32Asp)	LOC130062963, REEP6 (E32D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2013123	NM_138393.4(REEP6):c.103T>C (p.Tyr35His)	LOC130062963, REEP6 (Y35H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2987277	NM_138393.4(REEP6):c.115+7C>G	LOC130062963, 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 1146051	NM_138393.4(REEP6):c.115+10C>T	LOC130062963, REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014094	NM_138393.4(REEP6):c.115+20C>A	LOC130062963, 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 1649725	NM_138393.4(REEP6):c.116-20C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2058474	NM_138393.4(REEP6):c.116-16C>G	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164954	NM_138393.4(REEP6):c.116-16C>T	REEP6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1142878	NM_138393.4(REEP6):c.116-15G>A	REEP6	Single nucleotide variant (intron 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 1139570	NM_138393.4(REEP6):c.116-6C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1157171	NM_138393.4(REEP6):c.116-4G>A	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 944595	NM_138393.4(REEP6):c.119C>T (p.Ala40Val)	REEP6 (A40V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1129942	NM_138393.4(REEP6):c.120C>T (p.Ala40=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713485	NM_138393.4(REEP6):c.121G>A (p.Val41Ile)	REEP6 (V41I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1397844	NM_138393.4(REEP6):c.127_128del (p.Leu43fs)	REEP6 (L43fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 730972	NM_138393.4(REEP6):c.127C>T (p.Leu43=)	REEP6	Single nucleotide variant (synonymous 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 1449104	NM_138393.4(REEP6):c.138_139del (p.Tyr47fs)	REEP6 (Y47fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1546341	NM_138393.4(REEP6):c.141T>C (p.Tyr47=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	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 961751	NM_138393.4(REEP6):c.150C>A (p.Phe50Leu)	REEP6 (F50L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 777350	NM_138393.4(REEP6):c.150C>T (p.Phe50=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1054975	NM_138393.4(REEP6):c.151G>A (p.Gly51Ser)	REEP6 (G51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1499365	NM_138393.4(REEP6):c.154T>A (p.Tyr52Asn)	REEP6 (Y52N)	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 964477	NM_138393.4(REEP6):c.157G>A (p.Gly53Arg)	REEP6 (G53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422088	NM_138393.4(REEP6):c.159_160delinsTT (p.Ala54Ser)	REEP6 (A54S)	Indel (missense variant)	not provided	GUncertain significance
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 1160937	NM_138393.4(REEP6):c.162G>A (p.Ala54=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084980	NM_138393.4(REEP6):c.169C>T (p.Leu57=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1132300	NM_138393.4(REEP6):c.171G>A (p.Leu57=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 942093	NM_138393.4(REEP6):c.176A>G (p.Asn59Ser)	REEP6 (N59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1097535	NM_138393.4(REEP6):c.183C>T (p.Ile61=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469038	NM_138393.4(REEP6):c.184G>A (p.Gly62Arg)	REEP6 (G62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054857	NM_138393.4(REEP6):c.188T>A (p.Phe63Tyr)	REEP6 (F63Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511664	NM_138393.4(REEP6):c.191T>C (p.Val64Ala)	REEP6 (V64A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447234	NM_138393.4(REEP6):c.194A>G (p.Tyr65Cys)	REEP6 (Y65C)	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 1024362	NM_138393.4(REEP6):c.196C>T (p.Pro66Ser)	REEP6 (P66S)	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 1014009	NM_138393.4(REEP6):c.199G>A (p.Ala67Thr)	REEP6 (A67T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084353	NM_138393.4(REEP6):c.201A>G (p.Ala67=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1641830	NM_138393.4(REEP6):c.204T>C (p.Tyr68=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1363754	NM_138393.4(REEP6):c.206C>T (p.Ala69Val)	REEP6 (A69V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007117	NM_138393.4(REEP6):c.209C>T (p.Ser70Leu)	REEP6 (S70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1067550	NM_138393.4(REEP6):c.209+1G>A	REEP6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2776268	NM_138393.4(REEP6):c.209+7G>A	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975807	NM_138393.4(REEP6):c.209+8C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1089542	NM_138393.4(REEP6):c.209+10C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1147482	NM_138393.4(REEP6):c.209+11G>A	REEP6	Single nucleotide variant (intron 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 1168963	NM_138393.4(REEP6):c.210-14C>T	REEP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2783165	NM_138393.4(REEP6):c.210-7C>T	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 936156	NM_138393.4(REEP6):c.210-2A>G	REEP6	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 1479370	NM_138393.4(REEP6):c.217G>A (p.Ala73Thr)	REEP6 (A73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969657	NM_138393.4(REEP6):c.222C>T (p.Ile74=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 860344	NM_138393.4(REEP6):c.223G>A (p.Glu75Lys)	REEP6 (E75K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 77 +1 more	GConflicting classifications of pathogenicity
Select item 959884	NM_138393.4(REEP6):c.234C>G (p.Ser78Arg)	REEP6 (S78R)	Single nucleotide variant (missense variant)	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 1575850	NM_138393.4(REEP6):c.243C>T (p.Asp81=)	REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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