25829[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 155254	GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	ABRAXAS1, COPS4 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 2391445	NM_016067.4(MRPS18C):c.250G>A (p.Val84Ile)	ABRAXAS1, MRPS18C (V84I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2321699	NM_016067.4(MRPS18C):c.350T>C (p.Met117Thr)	ABRAXAS1, MRPS18C (M117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250704	NM_016067.4(MRPS18C):c.376G>A (p.Asp126Asn)	ABRAXAS1, MRPS18C (D98N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338297	NM_016067.4(MRPS18C):c.416G>C (p.Arg139Thr)	ABRAXAS1, MRPS18C (R111T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305937	NM_016067.4(MRPS18C):c.417A>T (p.Arg139Ser)	ABRAXAS1, MRPS18C (R139S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1272768	NM_016067.4(MRPS18C):c.*1023del	ABRAXAS1, MRPS18C	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 647480	NM_139076.3(ABRAXAS1):c.1223C>T (p.Thr408Ile)	ABRAXAS1 (T299I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1800363	NM_139076.3(ABRAXAS1):c.1220C>T (p.Pro407Leu)	ABRAXAS1 (P298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799600	NM_139076.3(ABRAXAS1):c.1217C>T (p.Ser406Phe)	ABRAXAS1 (S297F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 953515	NM_139076.3(ABRAXAS1):c.1217C>A (p.Ser406Tyr)	ABRAXAS1 (S406Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 411323	NM_139076.3(ABRAXAS1):c.1214G>C (p.Arg405Pro)	ABRAXAS1 (R405P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 241855	NM_139076.3(ABRAXAS1):c.1214G>A (p.Arg405Gln)	ABRAXAS1 (R405Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 999135	NM_139076.3(ABRAXAS1):c.1213C>T (p.Arg405Trp)	ABRAXAS1 (R296W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1436184	NM_139076.3(ABRAXAS1):c.1211C>T (p.Ser404Leu)	ABRAXAS1 (S404L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1800039	NM_139076.3(ABRAXAS1):c.1207T>A (p.Tyr403Asn)	ABRAXAS1 (Y294N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496530	NM_139076.3(ABRAXAS1):c.1206A>G (p.Glu402=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1800078	NM_139076.3(ABRAXAS1):c.1202G>C (p.Gly401Ala)	ABRAXAS1 (G292A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1800353	NM_139076.3(ABRAXAS1):c.1201G>A (p.Gly401Ser)	ABRAXAS1 (G292S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1800070	NM_139076.3(ABRAXAS1):c.1198T>G (p.Phe400Val)	ABRAXAS1 (F291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229138	NM_139076.3(ABRAXAS1):c.1195G>A (p.Gly399Ser)	ABRAXAS1 (G290S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625941	NM_139076.3(ABRAXAS1):c.1194G>C (p.Lys398Asn)	ABRAXAS1 (K289N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 703009	NM_139076.3(ABRAXAS1):c.1194G>A (p.Lys398=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1800053	NM_139076.3(ABRAXAS1):c.1191G>T (p.Met397Ile)	ABRAXAS1 (M288I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229137	NM_139076.3(ABRAXAS1):c.1189A>G (p.Met397Val)	ABRAXAS1 (M288V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682414	NM_139076.3(ABRAXAS1):c.1187del (p.Lys396fs)	ABRAXAS1 (K287fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1799786	NM_139076.3(ABRAXAS1):c.1184A>C (p.Glu395Ala)	ABRAXAS1 (E286A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1401441	NM_139076.3(ABRAXAS1):c.1181T>C (p.Ile394Thr)	ABRAXAS1 (I285T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1799635	NM_139076.3(ABRAXAS1):c.1180A>G (p.Ile394Val)	ABRAXAS1 (I285V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 633201	NM_139076.3(ABRAXAS1):c.1180A>C (p.Ile394Leu)	ABRAXAS1 (I394L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1799987	NM_139076.3(ABRAXAS1):c.1179A>C (p.Glu393Asp)	ABRAXAS1 (E284D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1800116	NM_139076.3(ABRAXAS1):c.1176A>C (p.Glu392Asp)	ABRAXAS1 (E283D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799734	NM_139076.3(ABRAXAS1):c.1172A>G (p.Asp391Gly)	ABRAXAS1 (D282G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1136863	NM_139076.3(ABRAXAS1):c.1170A>G (p.Thr390=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1799875	NM_139076.3(ABRAXAS1):c.1168A>C (p.Thr390Pro)	ABRAXAS1 (T281P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1800217	NM_139076.3(ABRAXAS1):c.1164A>G (p.Pro388=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2882645	NM_139076.3(ABRAXAS1):c.1163C>T (p.Pro388Leu)	ABRAXAS1 (P388L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446015	NM_139076.3(ABRAXAS1):c.1162C>G (p.Pro388Ala)	ABRAXAS1 (P279A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379618	NM_139076.3(ABRAXAS1):c.1162C>A (p.Pro388Thr)	ABRAXAS1 (P279T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 772017	NM_139076.3(ABRAXAS1):c.1158C>T (p.Ser386=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 496529	NM_139076.3(ABRAXAS1):c.1155G>C (p.Met385Ile)	ABRAXAS1 (M385I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005988	NM_139076.3(ABRAXAS1):c.1154T>C (p.Met385Thr)	ABRAXAS1 (M385T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 928538	NM_139076.3(ABRAXAS1):c.1152A>C (p.Lys384Asn)	ABRAXAS1 (K275N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1799721	NM_139076.3(ABRAXAS1):c.1150A>C (p.Lys384Gln)	ABRAXAS1 (K275Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1039222	NM_139076.3(ABRAXAS1):c.1148C>T (p.Ser383Phe)	ABRAXAS1 (S274F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1486852	NM_139076.3(ABRAXAS1):c.1147T>A (p.Ser383Thr)	ABRAXAS1 (S383T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1799932	NM_139076.3(ABRAXAS1):c.1145C>G (p.Ala382Gly)	ABRAXAS1 (A273G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1025736	NM_139076.3(ABRAXAS1):c.1144G>C (p.Ala382Pro)	ABRAXAS1 (A273P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128217	NM_139076.3(ABRAXAS1):c.1139A>G (p.Asp380Gly)	ABRAXAS1 (D380G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3229136	NM_139076.3(ABRAXAS1):c.1137A>C (p.Gln379His)	ABRAXAS1 (Q270H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799837	NM_139076.3(ABRAXAS1):c.1131T>C (p.Ser377=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1799792	NM_139076.3(ABRAXAS1):c.1130G>C (p.Ser377Thr)	ABRAXAS1 (S268T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799637	NM_139076.3(ABRAXAS1):c.1130G>A (p.Ser377Asn)	ABRAXAS1 (S268N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1025915	NM_139076.3(ABRAXAS1):c.1126A>G (p.Ser376Gly)	ABRAXAS1 (S267G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1800146	NM_139076.3(ABRAXAS1):c.1125T>C (p.Gly375=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1057052	NM_139076.3(ABRAXAS1):c.1124G>C (p.Gly375Ala)	ABRAXAS1 (G266A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1018995	NM_139076.3(ABRAXAS1):c.1124G>A (p.Gly375Asp)	ABRAXAS1 (G266D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1799625	NM_139076.3(ABRAXAS1):c.1123G>C (p.Gly375Arg)	ABRAXAS1 (G266R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3229135	NM_139076.3(ABRAXAS1):c.1120A>G (p.Thr374Ala)	ABRAXAS1 (T265A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799905	NM_139076.3(ABRAXAS1):c.1119T>C (p.Asp373=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3229134	NM_139076.3(ABRAXAS1):c.1118A>G (p.Asp373Gly)	ABRAXAS1 (D264G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625946	NM_139076.3(ABRAXAS1):c.1117G>C (p.Asp373His)	ABRAXAS1 (D373H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 416703	NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn)	ABRAXAS1 (D373N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 3229133	NM_139076.3(ABRAXAS1):c.1115C>A (p.Ala372Glu)	ABRAXAS1 (A263E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 936682	NM_139076.3(ABRAXAS1):c.1114G>C (p.Ala372Pro)	ABRAXAS1 (A372P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1604677	NM_139076.3(ABRAXAS1):c.1113A>G (p.Lys371=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1799632	NM_139076.3(ABRAXAS1):c.1112A>C (p.Lys371Thr)	ABRAXAS1 (K262T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229132	NM_139076.3(ABRAXAS1):c.1111A>C (p.Lys371Gln)	ABRAXAS1 (K262Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799922	NM_139076.3(ABRAXAS1):c.1109C>T (p.Ser370Phe)	ABRAXAS1 (S261F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449151	NM_139076.3(ABRAXAS1):c.1108T>G (p.Ser370Ala)	ABRAXAS1 (S370A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 128216	NM_139076.3(ABRAXAS1):c.1108T>A (p.Ser370Thr)	ABRAXAS1 (S370T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 128215	NM_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs)	ABRAXAS1 (S261fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1799633	NM_139076.3(ABRAXAS1):c.1106G>A (p.Arg369Gln)	ABRAXAS1 (R260Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 943727	NM_139076.3(ABRAXAS1):c.1106G>T (p.Arg369Leu)	ABRAXAS1 (R369L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 962014	NM_139076.3(ABRAXAS1):c.1105C>T (p.Arg369Ter)	ABRAXAS1 (R260* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 241853	NM_139076.3(ABRAXAS1):c.1102_1104del (p.Lys368del)	ABRAXAS1 (K368del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 799936	NM_139076.3(ABRAXAS1):c.1101C>T (p.Asp367=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1799767	NM_139076.3(ABRAXAS1):c.1098A>G (p.Gln366=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1035921	NM_139076.3(ABRAXAS1):c.1097A>G (p.Gln366Arg)	ABRAXAS1 (Q257R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3229131	NM_139076.3(ABRAXAS1):c.1095A>C (p.Thr365=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1093263	NM_139076.3(ABRAXAS1):c.1095A>G (p.Thr365=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2450300	NM_139076.3(ABRAXAS1):c.1093A>G (p.Thr365Ala)	ABRAXAS1 (T256A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 664277	NM_139076.3(ABRAXAS1):c.1091A>G (p.Asp364Gly)	ABRAXAS1 (D255G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2188124	NM_139076.3(ABRAXAS1):c.1089A>G (p.Leu363=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2560577	NM_139076.3(ABRAXAS1):c.1085T>C (p.Leu362Ser)	ABRAXAS1 (L253S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229130	NM_139076.3(ABRAXAS1):c.1084T>C (p.Leu362=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1800327	NM_139076.3(ABRAXAS1):c.1083G>A (p.Arg361=)	ABRAXAS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2561766	NM_139076.3(ABRAXAS1):c.1082G>T (p.Arg361Leu)	ABRAXAS1 (R252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2008495	NM_139076.3(ABRAXAS1):c.1082G>C (p.Arg361Pro)	ABRAXAS1 (R252P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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