LRRC37A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
Select item 3120639	NM_199340.5(LRRC37A3):c.4823G>A (p.Arg1608Gln)	LRRC37A3 (R726Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265613	NM_199340.5(LRRC37A3):c.4805T>C (p.Ile1602Thr)	LRRC37A3 (I720T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390001	NM_199340.5(LRRC37A3):c.4766C>T (p.Thr1589Ile)	LRRC37A3 (T707I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120638	NM_199340.5(LRRC37A3):c.4754C>T (p.Ala1585Val)	LRRC37A3 (A703V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386784	NM_199340.5(LRRC37A3):c.4732T>C (p.Tyr1578His)	LRRC37A3 (Y696H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291597	NM_199340.5(LRRC37A3):c.4654A>T (p.Ile1552Phe)	LRRC37A3 (I670F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120637	NM_199340.5(LRRC37A3):c.4652A>T (p.Tyr1551Phe)	LRRC37A3 (Y1551F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612649	NM_199340.5(LRRC37A3):c.4636T>C (p.Trp1546Arg)	LRRC37A3 (W664R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229799	NM_199340.5(LRRC37A3):c.4624G>T (p.Asp1542Tyr)	LRRC37A3 (D1542Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221180	NM_199340.5(LRRC37A3):c.4565G>A (p.Gly1522Asp)	LRRC37A3 (G1522D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356613	NM_199340.5(LRRC37A3):c.4552G>A (p.Val1518Ile)	LRRC37A3 (V1518I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374923	NM_199340.5(LRRC37A3):c.4488T>A (p.His1496Gln)	LRRC37A3 (H614Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546432	NM_199340.5(LRRC37A3):c.4359C>G (p.Asp1453Glu)	LRRC37A3 (D1453E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730719	NM_199340.5(LRRC37A3):c.4347C>T (p.Asn1449=)	LRRC37A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2404698	NM_199340.5(LRRC37A3):c.4333T>C (p.Trp1445Arg)	LRRC37A3 (W1445R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120636	NM_199340.5(LRRC37A3):c.4282G>A (p.Ala1428Thr)	LRRC37A3 (A1428T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120635	NM_199340.5(LRRC37A3):c.4259A>G (p.Asn1420Ser)	LRRC37A3 (N538S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494453	NM_199340.5(LRRC37A3):c.4258A>G (p.Asn1420Asp)	LRRC37A3 (N538D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456751	NM_199340.5(LRRC37A3):c.4208T>C (p.Met1403Thr)	LRRC37A3 (M521T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328053	NM_199340.5(LRRC37A3):c.4194A>C (p.Glu1398Asp)	LRRC37A3 (E1398D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120634	NM_199340.5(LRRC37A3):c.4191T>G (p.Phe1397Leu)	LRRC37A3 (F1397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120633	NM_199340.5(LRRC37A3):c.4151A>G (p.Glu1384Gly)	LRRC37A3 (E1384G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120632	NM_199340.5(LRRC37A3):c.4118T>G (p.Leu1373Arg)	LRRC37A3 (L491R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768909	NM_199340.5(LRRC37A3):c.4113T>C (p.Pro1371=)	LRRC37A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768910	NM_199340.5(LRRC37A3):c.4111C>T (p.Pro1371Ser)	LRRC37A3 (P1371S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2648102	NM_199340.5(LRRC37A3):c.4029G>A (p.Pro1343=)	LRRC37A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371454	NM_199340.5(LRRC37A3):c.3937C>T (p.Arg1313Cys)	LRRC37A3 (R431C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786657	NM_199340.5(LRRC37A3):c.3924C>G (p.His1308Gln)	LRRC37A3 (H1308Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2236589	NM_199340.5(LRRC37A3):c.3898C>G (p.His1300Asp)	LRRC37A3 (H418D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161856	NM_199340.5(LRRC37A3):c.3859del (p.Ala1287fs)	LRRC37A3 (A405fs +1 more)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 2492165	NM_199340.5(LRRC37A3):c.3794T>C (p.Leu1265Pro)	LRRC37A3 (L1265P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120631	NM_199340.5(LRRC37A3):c.3775T>C (p.Ser1259Pro)	LRRC37A3 (S1259P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373273	NM_199340.5(LRRC37A3):c.3764C>T (p.Ala1255Val)	LRRC37A3 (A1255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252116	NM_199340.5(LRRC37A3):c.3721C>A (p.His1241Asn)	LRRC37A3 (H359N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608584	NM_199340.5(LRRC37A3):c.3703C>A (p.Pro1235Thr)	LRRC37A3 (P353T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596315	NM_199340.5(LRRC37A3):c.3672G>C (p.Glu1224Asp)	LRRC37A3 (E1224D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521608	NM_199340.5(LRRC37A3):c.3616C>G (p.Leu1206Val)	LRRC37A3 (L324V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595376	NM_199340.5(LRRC37A3):c.3604G>A (p.Glu1202Lys)	LRRC37A3 (E1202K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3291599	NM_199340.5(LRRC37A3):c.3584C>T (p.Ala1195Val)	LRRC37A3 (A313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393765	NM_199340.5(LRRC37A3):c.3403A>G (p.Lys1135Glu)	LRRC37A3 (K1135E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394167	NM_199340.5(LRRC37A3):c.3383C>T (p.Ser1128Leu)	LRRC37A3 (S1128L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592460	NM_199340.5(LRRC37A3):c.3356C>T (p.Thr1119Ile)	LRRC37A3 (T237I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382989	NM_199340.5(LRRC37A3):c.3352A>G (p.Ser1118Gly)	LRRC37A3 (S236G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120628	NM_199340.5(LRRC37A3):c.3343G>T (p.Asp1115Tyr)	LRRC37A3 (D1115Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291608	NM_199340.5(LRRC37A3):c.3297C>A (p.Asn1099Lys)	LRRC37A3 (N217K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260857	NM_199340.5(LRRC37A3):c.3266C>T (p.Pro1089Leu)	LRRC37A3 (P1089L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521998	NM_199340.5(LRRC37A3):c.3250G>A (p.Glu1084Lys)	LRRC37A3 (E1084K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211559	NM_199340.5(LRRC37A3):c.3230G>A (p.Arg1077Gln)	LRRC37A3 (R1077Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768911	NM_199340.5(LRRC37A3):c.3207G>A (p.Ala1069=)	LRRC37A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474272	NM_199340.5(LRRC37A3):c.3206C>A (p.Ala1069Glu)	LRRC37A3 (A1069E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312741	NM_199340.5(LRRC37A3):c.3206C>T (p.Ala1069Val)	LRRC37A3 (A187V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277380	NM_199340.5(LRRC37A3):c.3166C>T (p.His1056Tyr)	LRRC37A3 (H1056Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120627	NM_199340.5(LRRC37A3):c.3106G>A (p.Glu1036Lys)	LRRC37A3 (E1036K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120626	NM_199340.5(LRRC37A3):c.3100A>G (p.Ser1034Gly)	LRRC37A3 (S1034G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291603	NM_199340.5(LRRC37A3):c.3071T>A (p.Met1024Lys)	LRRC37A3 (M142K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519855	NM_199340.5(LRRC37A3):c.3065G>A (p.Ser1022Asn)	LRRC37A3 (S1022N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120625	NM_199340.5(LRRC37A3):c.3062C>T (p.Pro1021Leu)	LRRC37A3 (P1021L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624344	NM_199340.5(LRRC37A3):c.3061C>T (p.Pro1021Ser)	LRRC37A3 (P1021S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120624	NM_199340.5(LRRC37A3):c.3032T>C (p.Met1011Thr)	LRRC37A3 (M129T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622129	NM_199340.5(LRRC37A3):c.3016A>G (p.Lys1006Glu)	LRRC37A3 (K124E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559254	NM_199340.5(LRRC37A3):c.2965G>A (p.Ala989Thr)	LRRC37A3 (A107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412521	NM_199340.5(LRRC37A3):c.2915A>G (p.Asn972Ser)	LRRC37A3 (N90S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215569	NM_199340.5(LRRC37A3):c.2530A>T (p.Ile844Phe)	LRRC37A3 (I844F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648103	NM_199340.5(LRRC37A3):c.2508C>T (p.Cys836=)	LRRC37A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2252135	NM_199340.5(LRRC37A3):c.2439T>G (p.Asn813Lys)	LRRC37A3 (N813K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264225	NM_199340.5(LRRC37A3):c.2422G>A (p.Glu808Lys)	LRRC37A3 (E808K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291602	NM_199340.5(LRRC37A3):c.2381C>G (p.Pro794Arg)	LRRC37A3 (P794R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601562	NM_199340.5(LRRC37A3):c.2374G>C (p.Gly792Arg)	LRRC37A3 (G792R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313897	NM_199340.5(LRRC37A3):c.2351A>T (p.His784Leu)	LRRC37A3 (H784L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409138	NM_199340.5(LRRC37A3):c.2335C>T (p.Arg779Trp)	LRRC37A3 (R779W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466852	NM_199340.5(LRRC37A3):c.2321C>T (p.Ala774Val)	LRRC37A3 (A774V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272236	NM_199340.5(LRRC37A3):c.2291G>A (p.Gly764Glu)	LRRC37A3 (G764E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412449	NM_199340.5(LRRC37A3):c.2260G>A (p.Ala754Thr)	LRRC37A3 (A754T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2548986	NM_199340.5(LRRC37A3):c.2218A>G (p.Thr740Ala)	LRRC37A3 (T740A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291607	NM_199340.5(LRRC37A3):c.2134C>T (p.His712Tyr)	LRRC37A3 (H712Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285736	NM_199340.5(LRRC37A3):c.2051C>T (p.Thr684Ile)	LRRC37A3 (T684I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543638	NM_199340.5(LRRC37A3):c.2044C>G (p.Pro682Ala)	LRRC37A3 (P682A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536158	NM_199340.5(LRRC37A3):c.1962G>T (p.Gln654His)	LRRC37A3 (Q654H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405176	NM_199340.5(LRRC37A3):c.1936C>T (p.Pro646Ser)	LRRC37A3 (P646S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208047	NM_199340.5(LRRC37A3):c.1892C>T (p.Pro631Leu)	LRRC37A3 (P631L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2214057	NM_199340.5(LRRC37A3):c.1868C>T (p.Thr623Met)	LRRC37A3 (T623M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269414	NM_199340.5(LRRC37A3):c.1861C>G (p.Pro621Ala)	LRRC37A3 (P621A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120619	NM_199340.5(LRRC37A3):c.1853C>T (p.Thr618Ile)	LRRC37A3 (T618I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411618	NM_199340.5(LRRC37A3):c.1816G>A (p.Val606Ile)	LRRC37A3 (V606I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404401	NM_199340.5(LRRC37A3):c.1780G>C (p.Gly594Arg)	LRRC37A3 (G594R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524849	NM_199340.5(LRRC37A3):c.1777C>G (p.Pro593Ala)	LRRC37A3 (P593A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401667	NM_199340.5(LRRC37A3):c.1760G>A (p.Gly587Glu)	LRRC37A3 (G587E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2223387	NM_199340.5(LRRC37A3):c.1744C>G (p.Leu582Val)	LRRC37A3 (L582V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403070	NM_199340.5(LRRC37A3):c.1736T>C (p.Val579Ala)	LRRC37A3 (V579A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2255769	NM_199340.5(LRRC37A3):c.1666G>A (p.Glu556Lys)	LRRC37A3 (E556K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323985	NM_199340.5(LRRC37A3):c.1324C>T (p.Leu442Phe)	LRRC37A3 (L442F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404664	NM_199340.5(LRRC37A3):c.1321C>T (p.Arg441Trp)	LRRC37A3 (R441W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225627	NM_199340.5(LRRC37A3):c.1312G>A (p.Ala438Thr)	LRRC37A3 (A438T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120617	NM_199340.5(LRRC37A3):c.1258A>G (p.Thr420Ala)	LRRC37A3 (T420A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120616	NM_199340.5(LRRC37A3):c.1190C>G (p.Pro397Arg)	LRRC37A3 (P397R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291605	NM_199340.5(LRRC37A3):c.1151G>A (p.Gly384Asp)	LRRC37A3 (G384D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252134	NM_199340.5(LRRC37A3):c.1145C>T (p.Thr382Ile)	LRRC37A3 (T382I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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