ClinVar for Gene (Select 345193) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3011976	NM_198506.5(LRIT3):c.1975A>C (p.Arg659=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997267	NM_198506.5(LRIT3):c.177T>C (p.Thr59=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994677	NM_198506.5(LRIT3):c.1994A>G (p.Gln665Arg)	LRIT3 (Q665R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967189	NM_198506.5(LRIT3):c.594A>G (p.Leu198=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879856	NM_198506.5(LRIT3):c.357T>C (p.Ala119=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879727	NM_198506.5(LRIT3):c.1065A>G (p.Pro355=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866686	NM_198506.5(LRIT3):c.349C>T (p.Leu117=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806314	NM_198506.5(LRIT3):c.246G>A (p.Glu82=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799042	NM_198506.5(LRIT3):c.1701C>T (p.Ile567=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796944	NM_198506.5(LRIT3):c.1089T>G (p.Asp363Glu)	LRIT3 (D363E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793532	NM_198506.5(LRIT3):c.896-13T>A	LRIT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2781086	NM_198506.5(LRIT3):c.858A>C (p.Thr286=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778564	NM_198506.5(LRIT3):c.1956G>T (p.Glu652Asp)	LRIT3 (E652D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706114	NM_198506.5(LRIT3):c.117-9T>C	LRIT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2611945	NM_198506.5(LRIT3):c.1976G>C (p.Arg659Thr)	LRIT3 (R659T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610226	NM_198506.5(LRIT3):c.1934G>A (p.Arg645Gln)	LRIT3 (R645Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606161	NM_198506.5(LRIT3):c.1024A>T (p.Thr342Ser)	LRIT3 (T342S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545897	NM_198506.5(LRIT3):c.1208C>T (p.Ser403Phe)	LRIT3 (S403F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532479	NM_198506.5(LRIT3):c.1595C>T (p.Ala532Val)	LRIT3 (A532V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509846	NM_198506.5(LRIT3):c.522G>T (p.Glu174Asp)	LRIT3 (E174D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459119	NM_198506.5(LRIT3):c.157A>G (p.Thr53Ala)	LRIT3 (T53A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427658	NC_000004.11:g.(?_110772640)_(110773152_?)dup	LRIT3	Duplication	not provided	GUncertain significance
Select item 2420731	NM_198506.5(LRIT3):c.1122A>G (p.Gly374=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417449	NM_198506.5(LRIT3):c.1131A>T (p.Thr377=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407413	NM_198506.5(LRIT3):c.679G>T (p.Asp227Tyr)	LRIT3 (D227Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331797	NM_198506.5(LRIT3):c.323A>G (p.His108Arg)	LRIT3 (H108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287977	NM_198506.5(LRIT3):c.530C>G (p.Thr177Ser)	LRIT3 (T177S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2259815	NM_198506.5(LRIT3):c.781A>G (p.Thr261Ala)	LRIT3 (T261A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226605	NM_198506.5(LRIT3):c.821G>T (p.Arg274Leu)	LRIT3 (R274L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201253	NM_198506.5(LRIT3):c.47G>A (p.Gly16Glu)	LRIT3 (G16E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195447	NM_198506.5(LRIT3):c.1819T>G (p.Cys607Gly)	LRIT3 (C607G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171428	NM_198506.5(LRIT3):c.103G>A (p.Gly35Ser)	LRIT3 (G35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168070	NM_198506.5(LRIT3):c.589+9G>A	LRIT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2160802	NM_198506.5(LRIT3):c.1540G>T (p.Ala514Ser)	LRIT3 (A514S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150431	NM_198506.5(LRIT3):c.1113G>A (p.Pro371=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131665	NM_198506.5(LRIT3):c.1171T>C (p.Phe391Leu)	LRIT3 (F391L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131060	NM_198506.5(LRIT3):c.1881C>G (p.Ile627Met)	LRIT3 (I627M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128249	NM_198506.5(LRIT3):c.1832G>A (p.Cys611Tyr)	LRIT3 (C611Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127279	NM_198506.5(LRIT3):c.1602C>T (p.Ser534=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124858	NM_198506.5(LRIT3):c.1407A>G (p.Lys469=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118819	NM_198506.5(LRIT3):c.1894_1895delinsGG (p.Leu632Gly)	LRIT3 (L632G)	Indel (missense variant)	not provided	GUncertain significance
Select item 2116056	NM_198506.5(LRIT3):c.235_236insC (p.Tyr79fs)	LRIT3 (Y79fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2116046	NM_198506.5(LRIT3):c.1576G>A (p.Asp526Asn)	LRIT3 (D526N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115415	NM_198506.5(LRIT3):c.547C>A (p.Pro183Thr)	LRIT3 (P183T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109065	NM_198506.5(LRIT3):c.518T>C (p.Leu173Pro)	LRIT3 (L173P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107088	NM_198506.5(LRIT3):c.315_316delinsAT (p.Gln106Ter)	LRIT3 (Q106*)	Indel (nonsense)	not provided	GUncertain significance
Select item 2102365	NM_198506.5(LRIT3):c.749A>G (p.His250Arg)	LRIT3 (H250R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101641	NM_198506.5(LRIT3):c.1974T>C (p.Ser658=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098813	NM_198506.5(LRIT3):c.20_30del (p.Leu7fs)	LRIT3 (L7fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2096226	NM_198506.5(LRIT3):c.116+20A>G	LRIT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095357	NM_198506.5(LRIT3):c.1305C>T (p.Thr435=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093567	NM_198506.5(LRIT3):c.895+1G>A	LRIT3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2090804	NM_198506.5(LRIT3):c.1062A>T (p.Pro354=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089399	NM_198506.5(LRIT3):c.1855G>A (p.Asp619Asn)	LRIT3 (D619N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079489	NM_198506.5(LRIT3):c.252G>A (p.Gln84=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071346	NM_198506.5(LRIT3):c.200C>T (p.Thr67Ile)	LRIT3 (T67I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071043	NM_198506.5(LRIT3):c.608G>C (p.Trp203Ser)	LRIT3 (W203S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069430	NM_198506.5(LRIT3):c.867A>T (p.Arg289Ser)	LRIT3 (R289S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062556	NM_198506.5(LRIT3):c.1472G>A (p.Arg491Lys)	LRIT3 (R491K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040642	NM_198506.5(LRIT3):c.1131A>C (p.Thr377=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037641	NM_198506.5(LRIT3):c.1360G>A (p.Val454Met)	LRIT3 (V454M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036377	NM_198506.5(LRIT3):c.330G>A (p.Leu110=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031034	NM_198506.5(LRIT3):c.279G>A (p.Val93=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030325	NM_198506.5(LRIT3):c.402G>T (p.Leu134=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027466	NM_198506.5(LRIT3):c.1791A>G (p.Pro597=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022122	NM_198506.5(LRIT3):c.414T>C (p.Asn138=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021962	NM_198506.5(LRIT3):c.1737del (p.Gln580fs)	LRIT3 (Q580fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2021145	NM_198506.5(LRIT3):c.589+13G>A	LRIT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017404	NM_198506.5(LRIT3):c.1855del (p.Asp619fs)	LRIT3 (D619fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2010226	NM_198506.5(LRIT3):c.936A>G (p.Ile312Met)	LRIT3 (I312M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006040	NM_198506.5(LRIT3):c.995A>G (p.Asn332Ser)	LRIT3 (N332S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004703	NM_198506.5(LRIT3):c.21G>C (p.Leu7=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999910	NM_198506.5(LRIT3):c.732G>T (p.Gln244His)	LRIT3 (Q244H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996724	NM_198506.5(LRIT3):c.672G>A (p.Val224=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986191	NM_198506.5(LRIT3):c.153G>C (p.Leu51=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976554	NM_198506.5(LRIT3):c.1763C>T (p.Thr588Ile)	LRIT3 (T588I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970086	NM_198506.5(LRIT3):c.1501A>T (p.Thr501Ser)	LRIT3 (T501S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968984	NM_198506.5(LRIT3):c.1668A>G (p.Pro556=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960990	NM_198506.5(LRIT3):c.598G>C (p.Asp200His)	LRIT3 (D200H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959836	NM_198506.5(LRIT3):c.1650C>T (p.Tyr550=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957660	NM_198506.5(LRIT3):c.378G>C (p.Leu126=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955379	NM_198506.5(LRIT3):c.2023C>T (p.Pro675Ser)	LRIT3 (P675S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953719	NM_198506.5(LRIT3):c.233A>G (p.Tyr78Cys)	LRIT3 (Y78C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951682	NM_198506.5(LRIT3):c.931T>A (p.Ser311Thr)	LRIT3 (S311T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949777	NM_198506.5(LRIT3):c.1319G>C (p.Arg440Pro)	LRIT3 (R440P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949145	NM_198506.5(LRIT3):c.116+6C>T	LRIT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1946828	NM_198506.5(LRIT3):c.534T>C (p.His178=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943261	NM_198506.5(LRIT3):c.840C>T (p.Phe280=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942949	NM_198506.5(LRIT3):c.126A>G (p.Leu42=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941829	NM_198506.5(LRIT3):c.1658G>A (p.Cys553Tyr)	LRIT3 (C553Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940840	NM_198506.5(LRIT3):c.3G>A (p.Met1Ile)	LRIT3 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939152	NM_198506.5(LRIT3):c.1784T>A (p.Ile595Asn)	LRIT3 (I595N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937900	NM_198506.5(LRIT3):c.1268C>A (p.Thr423Asn)	LRIT3 (T423N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937435	NM_198506.5(LRIT3):c.542C>T (p.Ser181Leu)	LRIT3 (S181L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937243	NM_198506.5(LRIT3):c.589+15C>T	LRIT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935036	NM_198506.5(LRIT3):c.5A>T (p.His2Leu)	LRIT3 (H2L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934581	NM_198506.5(LRIT3):c.1789C>G (p.Pro597Ala)	LRIT3 (P597A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934136	NM_198506.5(LRIT3):c.1805TGT[1] (p.Leu603del)	LRIT3 (L603del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance

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