12729[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	LOC130056444, LOC130056445 +97 more	Copy number loss	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +131 more	Copy number loss	See cases	GPathogenic
Select item 152326	GRCh38/hg38 14q32.2(chr14:100236766-100743192)x3	BEGAIN, DLK1 +37 more	Copy number gain	See cases	GUncertain significance
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 3039971	NM_004184.4(WARS1):c.1398G>T (p.Leu466=)	WARS1	Single nucleotide variant (synonymous variant)	WARS1-related disorder	GLikely benign
Select item 3189492	NM_004184.4(WARS1):c.1353G>T (p.Glu451Asp)	WARS1 (E410D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644529	NM_004184.4(WARS1):c.1348A>C (p.Lys450Gln)	WARS1 (K409Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3189491	NM_004184.4(WARS1):c.1346G>A (p.Arg449His)	WARS1 (R408H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499492	NM_004184.4(WARS1):c.1342C>T (p.Arg448Trp)	WARS1 (R407W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities	GUncertain significance
Select item 2581995	NM_004184.4(WARS1):c.1306G>A (p.Glu436Lys)	WARS1 (E395K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3332551	NM_004184.4(WARS1):c.1303A>G (p.Ile435Val)	WARS1 (I394V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557277	NM_004184.4(WARS1):c.1297G>A (p.Ala433Thr)	WARS1 (A392T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3364363	NM_004184.4(WARS1):c.1274T>C (p.Met425Thr)	WARS1 (M384T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499496	NM_004184.4(WARS1):c.1255G>A (p.Asp419Asn)	WARS1 (D419N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities	GPathogenic
Select item 1251090	NM_004184.4(WARS1):c.1255-50A>G	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225395	NM_004184.4(WARS1):c.1255-128C>G	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262867	NM_004184.4(WARS1):c.1255-171T>C	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252470	NM_004184.4(WARS1):c.1254+35T>C	WARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3235044	NM_004184.4(WARS1):c.1248C>G (p.Ile416Met)	WARS1 (I375M +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 9	GUncertain significance
Select item 2477804	NM_004184.4(WARS1):c.1235A>G (p.Lys412Arg)	WARS1 (K371R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189489	NM_004184.4(WARS1):c.1231G>A (p.Asp411Asn)	WARS1 (D411N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879286	NM_004184.4(WARS1):c.1230C>T (p.Asp410=)	WARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3189488	NM_004184.4(WARS1):c.1155G>T (p.Glu385Asp)	WARS1 (E344D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1267941	NM_004184.4(WARS1):c.1114-116G>T	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251869	NM_004184.4(WARS1):c.1114-143A>G	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269460	NM_004184.4(WARS1):c.1114-203G>C	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644530	NM_004184.4(WARS1):c.1113+9T>C	WARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3189487	NM_004184.4(WARS1):c.1063C>T (p.Pro355Ser)	WARS1 (P314S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611596	NM_004184.4(WARS1):c.1062C>A (p.Asp354Glu)	WARS1 (D313E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189486	NM_004184.4(WARS1):c.1058G>C (p.Ser353Thr)	WARS1 (S312T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570889	NM_004184.4(WARS1):c.1038C>G (p.Ala346=)	WARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1265241	NM_004184.4(WARS1):c.1003C>T (p.Leu335=)	WARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2499493	NM_004184.4(WARS1):c.997G>A (p.Ala333Thr)	WARS1 (A292T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities	GUncertain significance
Select item 3189508	NM_004184.4(WARS1):c.967G>A (p.Val323Ile)	WARS1 (V282I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1180500	NM_004184.4(WARS1):c.964G>A (p.Asp322Asn)	WARS1 (D281N +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 9	GUncertain significance
Select item 975157	NM_004184.4(WARS1):c.941A>G (p.Asp314Gly)	WARS1 (D314G +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 9	GPathogenic
Select item 1248838	NM_004184.4(WARS1):c.940-137_940-136dup	WARS1	Duplication (intron variant)	not provided	GBenign
Select item 1273500	NM_004184.4(WARS1):c.940-157T>A	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3189507	NM_004184.4(WARS1):c.893G>A (p.Arg298Gln)	WARS1 (R298Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3036551	NM_004184.4(WARS1):c.875C>T (p.Ser292Leu)	WARS1 (S251L +1 more)	Single nucleotide variant (missense variant)	WARS1-related disorder	GUncertain significance
Select item 1709756	NM_004184.4(WARS1):c.841C>T (p.Pro281Ser)	WARS1 (P240S +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 9	GUncertain significance
Select item 3065742	NM_004184.4(WARS1):c.827G>A (p.Gly276Glu)	WARS1 (G235E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities	GLikely pathogenic
Select item 1801423	NM_004184.4(WARS1):c.827-1253_827-1215del	WARS1	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1178170	NM_004184.4(WARS1):c.826+6A>G	WARS1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 9 +1 more	GBenign
Select item 2672568	NM_004184.4(WARS1):c.817G>A (p.Asp273Asn)	WARS1 (D232N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3189506	NM_004184.4(WARS1):c.772G>A (p.Val258Ile)	WARS1 (V217I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 441278	NM_004184.4(WARS1):c.770A>G (p.His257Arg)	WARS1 (H257R +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 2504782	NM_004184.4(WARS1):c.713T>A (p.Leu238Gln)	WARS1 (L197Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2592873	NM_004184.4(WARS1):c.700A>G (p.Ile234Val)	WARS1 (I234V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3029385	NM_004184.4(WARS1):c.699C>G (p.Phe233Leu)	WARS1 (F192L +1 more)	Single nucleotide variant (missense variant)	WARS1-related disorder	GUncertain significance
Select item 3189504	NM_004184.4(WARS1):c.677G>C (p.Gly226Ala)	WARS1 (G185A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644531	NM_004184.4(WARS1):c.669C>T (p.Ile223=)	WARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683278	NM_004184.4(WARS1):c.631G>T (p.Ala211Ser)	WARS1 (A170S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644532	NM_004184.4(WARS1):c.602A>G (p.Tyr201Cys)	WARS1 (Y160C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577718	NM_004184.4(WARS1):c.561_564delinsAAA (p.Phe187fs)	WARS1 (F146fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3364362	NM_004184.4(WARS1):c.543-2A>G	WARS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3189503	NM_004184.4(WARS1):c.523A>G (p.Ile175Val)	WARS1 (I134V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189502	NM_004184.4(WARS1):c.485G>A (p.Arg162Gln)	WARS1 (R162Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455963	NM_004184.4(WARS1):c.446C>A (p.Ala149Asp)	WARS1 (A108D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189501	NM_004184.4(WARS1):c.440T>G (p.Leu147Arg)	WARS1 (L106R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189500	NM_004184.4(WARS1):c.439C>G (p.Leu147Val)	WARS1 (L106V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438555	NM_004184.4(WARS1):c.435G>T (p.Gln145His)	WARS1 (Q104H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246611	NM_004184.4(WARS1):c.423-77C>T	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233169	NM_004184.4(WARS1):c.422+118G>C	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 932924	NM_004184.4(WARS1):c.413T>A (p.Phe138Tyr)	WARS1 (F138Y +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 9	GPathogenic
Select item 3189499	NM_004184.4(WARS1):c.407T>C (p.Ile136Thr)	WARS1 (I136T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319134	NM_004184.4(WARS1):c.398G>A (p.Arg133His)	WARS1 (R133H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485684	NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)	WARS1 (R133C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3189498	NM_004184.4(WARS1):c.359T>C (p.Ile120Thr)	WARS1 (I79T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069022	NM_004184.4(WARS1):c.355C>T (p.Arg119Ter)	WARS1 (R119* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2513545	NM_004184.4(WARS1):c.339C>A (p.Asp113Glu)	WARS1 (D72E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429454	NM_004184.4(WARS1):c.317G>T (p.Arg106Leu)	WARS1 (R106L +1 more)	Single nucleotide variant (missense variant)	Developmental delay	GUncertain significance
Select item 2608632	NM_004184.4(WARS1):c.316C>T (p.Arg106Trp)	WARS1 (R106W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708442	NM_004184.4(WARS1):c.313+5G>A	WARS1	Single nucleotide variant (intron variant)	See cases	GLikely benign
Select item 2672569	NM_004184.4(WARS1):c.312T>A (p.Ile104=)	WARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644533	NM_004184.4(WARS1):c.303T>C (p.Asp101=)	WARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3189497	NM_004184.4(WARS1):c.301G>A (p.Asp101Asn)	WARS1 (D60N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189496	NM_004184.4(WARS1):c.281G>A (p.Ser94Asn)	WARS1 (S53N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189495	NM_004184.4(WARS1):c.236A>T (p.Glu79Val)	WARS1 (E38V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644534	NM_004184.4(WARS1):c.162G>A (p.Ala54=)	WARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3189494	NM_004184.4(WARS1):c.160G>A (p.Ala54Thr)	WARS1 (A13T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189490	NM_004184.4(WARS1):c.130G>C (p.Val44Leu)	WARS1 (V3L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1280024	NM_004184.4(WARS1):c.100-139A>G	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3189505	NM_004184.4(WARS1):c.67G>A (p.Val23Ile)	WARS1 (V23I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332550	NM_004184.4(WARS1):c.50C>T (p.Ala17Val)	WARS1 (A17V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332549	NM_004184.4(WARS1):c.49G>A (p.Ala17Thr)	WARS1 (A17T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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