924[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 366600	NM_001497.4(B4GALT1):c.*2718G>C	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366608	NM_001497.4(B4GALT1):c.*2398del	B4GALT1	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366612	NM_001497.4(B4GALT1):c.2200_2203del	B4GALT1	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 366614	NM_001497.4(B4GALT1):c.*2172GTT[1]	B4GALT1	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 366615	NM_001497.4(B4GALT1):c.2172_2176del	B4GALT1	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366619	NM_001497.4(B4GALT1):c.*1890del	B4GALT1	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 366620	NM_001497.4(B4GALT1):c.*1874C>T	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366623	NM_001497.4(B4GALT1):c.*1675dup	B4GALT1	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 366631	NM_001497.4(B4GALT1):c.*1087dup	B4GALT1	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366638	NM_001497.4(B4GALT1):c.*730AGAA[1]	B4GALT1	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 366639	NM_001497.4(B4GALT1):c.*714G>C	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366641	NM_001497.4(B4GALT1):c.*705dup	B4GALT1	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1238534	NM_001497.4(B4GALT1):c.*256C>A	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1199111	NM_001497.4(B4GALT1):c.*154G>A	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1321615	NM_001497.4(B4GALT1):c.*153C>T	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1289695	NM_001497.4(B4GALT1):c.*130G>A	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2258195	NM_001497.4(B4GALT1):c.1194C>G (p.Ser398Arg)	B4GALT1 (S357R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2161008	NM_001497.4(B4GALT1):c.1149A>T (p.Arg383Ser)	B4GALT1 (R342S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 967178	NM_001497.4(B4GALT1):c.1130A>G (p.Gln377Arg)	B4GALT1 (Q336R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2247769	NM_001497.4(B4GALT1):c.1112T>G (p.Leu371Trp)	B4GALT1 (L371W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476078	NM_001497.4(B4GALT1):c.1096A>G (p.Met366Val)	B4GALT1 (M353V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 449848	NM_001497.4(B4GALT1):c.1096A>T (p.Met366Leu)	B4GALT1 (M366L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988643	NM_001497.4(B4GALT1):c.1065-5T>C	B4GALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391209	NM_001497.4(B4GALT1):c.1065-12T>A	B4GALT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1326535	NM_001497.4(B4GALT1):c.1064+32C>G	B4GALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 235426	NM_001497.4(B4GALT1):c.1064+5A>T	B4GALT1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2502285	NM_001497.4(B4GALT1):c.1055A>G (p.Asn352Ser)	B4GALT1 (N311S +1 more)	Single nucleotide variant (missense variant +1 more)	Combined low LDL and fibrinogen	GPathogenic
Select item 366655	NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=)	B4GALT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 16229	NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs)	B4GALT1 (R345fs +2 more)	Duplication (frameshift variant +1 more)	B4GALT1-congenital disorder of glycosylation	GPathogenic
Select item 391135	NM_001497.4(B4GALT1):c.987T>C (p.Ser329=)	B4GALT1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 366656	NM_001497.4(B4GALT1):c.960-12T>C	B4GALT1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 682382	NM_001497.4(B4GALT1):c.960-19_960-18del	B4GALT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1253110	NM_001497.4(B4GALT1):c.960-94G>A	B4GALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321486	NM_001497.4(B4GALT1):c.959+135G>A	B4GALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326185	NM_001497.4(B4GALT1):c.959+22T>C	B4GALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606154	NM_001497.4(B4GALT1):c.959+15T>C	B4GALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2142657	NM_001497.4(B4GALT1):c.898A>G (p.Ile300Val)	B4GALT1 (I287V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 281595	NM_001497.4(B4GALT1):c.864_867delinsGGTG (p.Gly288_Val289=)	B4GALT1	Indel (intron variant +1 more)	not provided	GUncertain significance
Select item 281499	NM_001497.4(B4GALT1):c.867C>G (p.Val289=)	B4GALT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 281498	NM_001497.4(B4GALT1):c.864T>G (p.Gly288=)	B4GALT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3036356	NM_001497.4(B4GALT1):c.837-10T>C	B4GALT1	Single nucleotide variant (intron variant)	B4GALT1-related disorder	GLikely benign
Select item 1258383	NM_001497.4(B4GALT1):c.837-128del	B4GALT1	Deletion (intron variant)	not provided	GBenign
Select item 1244491	NM_001497.4(B4GALT1):c.836+214T>C	B4GALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177790	NM_001497.4(B4GALT1):c.836+213T>C	B4GALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180058	NM_001497.4(B4GALT1):c.836+206T>C	B4GALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235476	NM_001497.4(B4GALT1):c.836+156A>G	B4GALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3259400	NM_001497.4(B4GALT1):c.817A>T (p.Met273Leu)	B4GALT1 (M260L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532280	NM_001497.4(B4GALT1):c.814G>A (p.Ala272Thr)	B4GALT1 (A259T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1031989	NM_001497.4(B4GALT1):c.811G>A (p.Val271Ile)	B4GALT1 (V258I +1 more)	Single nucleotide variant (missense variant +1 more)	B4GALT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1038234	NM_001497.4(B4GALT1):c.800G>A (p.Arg267Gln)	B4GALT1 (R267Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180791	NM_001497.4(B4GALT1):c.790T>G (p.Ser264Ala)	B4GALT1 (S264A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2144541	NM_001497.4(B4GALT1):c.777G>A (p.Ala259=)	B4GALT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2295416	NM_001497.4(B4GALT1):c.776C>G (p.Ala259Gly)	B4GALT1 (A246G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243774	NM_001497.4(B4GALT1):c.776C>T (p.Ala259Val)	B4GALT1 (A259V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 366659	NM_001497.4(B4GALT1):c.770A>G (p.His257Arg)	B4GALT1 (H257R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1658466	NM_001497.4(B4GALT1):c.765T>C (p.Asn255=)	B4GALT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2761900	NM_001497.4(B4GALT1):c.757C>G (p.Pro253Ala)	B4GALT1 (P240A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3259420	NM_001497.4(B4GALT1):c.746T>C (p.Val249Ala)	B4GALT1 (V236A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1933955	NM_001497.4(B4GALT1):c.716A>G (p.Tyr239Cys)	B4GALT1 (Y239C +1 more)	Single nucleotide variant (missense variant +1 more)	B4GALT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2553649	NM_001497.4(B4GALT1):c.703G>A (p.Ala235Thr)	B4GALT1 (A222T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205382	NM_001497.4(B4GALT1):c.661A>G (p.Ile221Val)	B4GALT1 (I208V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1226626	NM_001497.4(B4GALT1):c.649-102T>C	B4GALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239430	NM_001497.4(B4GALT1):c.649-161A>G	B4GALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238830	NM_001497.4(B4GALT1):c.648+325T>A	B4GALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676106	NM_001497.4(B4GALT1):c.648+102C>T	B4GALT1	Single nucleotide variant (intron variant)	B4GALT1-congenital disorder of glycosylation +1 more	GBenign
Select item 1051985	NM_001497.4(B4GALT1):c.648+6G>A	B4GALT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 366660	NM_001497.4(B4GALT1):c.621G>A (p.Leu207=)	B4GALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063353	NM_001497.4(B4GALT1):c.611G>A (p.Arg204His)	B4GALT1 (R191H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93779	NM_001497.4(B4GALT1):c.597C>T (p.His199=)	B4GALT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 998093	NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter)	B4GALT1 (Y180*)	Single nucleotide variant (nonsense)	B4GALT1-congenital disorder of glycosylation	GPathogenic
Select item 3132695	NM_001497.4(B4GALT1):c.575A>C (p.Lys192Thr)	B4GALT1 (K179T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428878	NM_001497.4(B4GALT1):c.557A>G (p.Asn186Ser)	B4GALT1 (N186S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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