23704[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 173

<< First< Prev

Page of 2

	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 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 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 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	AK3, BRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 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 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	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 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	SMARCA2, SNAPC3 +290 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	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 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 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 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC130001455, LOC130001456 +280 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	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 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 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 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 57009	GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1	ADAMTSL1, BNC2 +67 more	Copy number loss	See cases	GPathogenic
Select item 57336	GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1	BNC2, BNC2-AS1 +59 more	Copy number loss	See cases	GPathogenic
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 3329896	NM_152574.3(TTC39B):c.1847A>G (p.Asp616Gly)	TTC39B (D517G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329898	NM_152574.3(TTC39B):c.1799A>G (p.His600Arg)	TTC39B (H598R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768278	NM_152574.3(TTC39B):c.1738A>G (p.Ile580Val)	TTC39B (I481V +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2323959	NM_152574.3(TTC39B):c.1713A>T (p.Lys571Asn)	TTC39B (K571N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408784	NM_152574.3(TTC39B):c.1708T>C (p.Tyr570His)	TTC39B (Y471H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293661	NM_152574.3(TTC39B):c.1679C>T (p.Pro560Leu)	TTC39B (P558L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768279	NM_152574.3(TTC39B):c.1620A>G (p.Leu540=)	TTC39B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3329900	NM_152574.3(TTC39B):c.1609C>G (p.Gln537Glu)	TTC39B (Q438E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203969	NM_152574.3(TTC39B):c.1590G>T (p.Lys530Asn)	TTC39B (K431N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254798	NM_152574.3(TTC39B):c.1460G>T (p.Arg487Ile)	TTC39B (R418I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270540	NM_152574.3(TTC39B):c.1429G>C (p.Val477Leu)	TTC39B (V408L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525463	NM_152574.3(TTC39B):c.1367G>A (p.Arg456His)	TTC39B (R456H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614229	NM_152574.3(TTC39B):c.1364G>A (p.Arg455Gln)	TTC39B (R356Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274812	NM_152574.3(TTC39B):c.1333C>T (p.Pro445Ser)	TTC39B (P376S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408888	NM_152574.3(TTC39B):c.1271A>G (p.Asn424Ser)	TTC39B (N325S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605860	NM_152574.3(TTC39B):c.1256T>G (p.Val419Gly)	TTC39B (V350G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605859	NM_152574.3(TTC39B):c.1255G>T (p.Val419Leu)	TTC39B (V406L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375119	NM_152574.3(TTC39B):c.1240C>T (p.Pro414Ser)	TTC39B (P414S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776411	NM_152574.3(TTC39B):c.1221A>G (p.Ala407=)	TTC39B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184350	NM_152574.3(TTC39B):c.1148A>G (p.Gln383Arg)	TTC39B (Q314R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466948	NM_152574.3(TTC39B):c.1138A>T (p.Asn380Tyr)	TTC39B (N281Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509021	NM_152574.3(TTC39B):c.1006A>G (p.Ile336Val)	TTC39B (I237V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287889	NM_152574.3(TTC39B):c.1000G>T (p.Ala334Ser)	TTC39B (A265S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605353	NM_152574.3(TTC39B):c.980C>T (p.Ser327Leu)	TTC39B (S228L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785279	NM_152574.3(TTC39B):c.975+4C>T	TTC39B (R327C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2474335	NM_152574.3(TTC39B):c.956T>C (p.Phe319Ser)	TTC39B (F220S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398685	NM_152574.3(TTC39B):c.941G>A (p.Arg314His)	TTC39B (R215H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394240	NM_152574.3(TTC39B):c.890A>T (p.Tyr297Phe)	TTC39B (Y198F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184348	NM_152574.3(TTC39B):c.821G>A (p.Arg274His)	TTC39B (R175H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282291	NM_152574.3(TTC39B):c.779T>C (p.Ile260Thr)	TTC39B (I191T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785280	NM_152574.3(TTC39B):c.777T>C (p.Phe259=)	TTC39B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2270772	NM_152574.3(TTC39B):c.751G>C (p.Ala251Pro)	TTC39B (A251P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599028	NM_152574.3(TTC39B):c.698G>C (p.Gly233Ala)	TTC39B (G233A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329899	NM_152574.3(TTC39B):c.686A>C (p.Tyr229Ser)	TTC39B (Y229S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217103	NM_152574.3(TTC39B):c.632G>C (p.Cys211Ser)	TTC39B (C211S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600576	NM_152574.3(TTC39B):c.607A>G (p.Thr203Ala)	TTC39B (T104A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184355	NM_152574.3(TTC39B):c.557T>G (p.Val186Gly)	TTC39B (V117G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617733	NM_152574.3(TTC39B):c.429A>C (p.Lys143Asn)	TTC39B (K44N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455706	NM_152574.3(TTC39B):c.407C>T (p.Thr136Ile)	TTC39B (T136I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273176	NM_152574.3(TTC39B):c.401T>C (p.Leu134Ser)	TTC39B (L35S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329897	NM_152574.3(TTC39B):c.398C>A (p.Ala133Asp)	TTC39B (A133D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340463	NM_152574.3(TTC39B):c.385G>T (p.Ala129Ser)	TTC39B (A129S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310135	NM_152574.3(TTC39B):c.338A>G (p.Gln113Arg)	TTC39B (Q44R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616542	NM_152574.3(TTC39B):c.317A>G (p.Tyr106Cys)	TTC39B (Y106C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349508	NM_152574.3(TTC39B):c.300G>A (p.Met100Ile)	TTC39B (M100I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327884	NM_152574.3(TTC39B):c.296G>A (p.Ser99Asn)	TTC39B (S99N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386412	NM_152574.3(TTC39B):c.262G>A (p.Ala88Thr)	TTC39B (A88T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2659087	NM_152574.3(TTC39B):c.228A>G (p.Ala76=)	TTC39B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2659088	NM_152574.3(TTC39B):c.184A>C (p.Thr62Pro)	TTC39B (T62P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2659089	NM_152574.3(TTC39B):c.174-8A>G	TTC39B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3184354	NM_152574.3(TTC39B):c.170G>C (p.Ser57Thr)	TTC39B (S57T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288136	NM_152574.3(TTC39B):c.152G>A (p.Arg51His)	TTC39B (R51H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3184353	NM_152574.3(TTC39B):c.151C>T (p.Arg51Cys)	TTC39B (R51C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768280	NM_152574.3(TTC39B):c.141G>A (p.Ala47=)	TTC39B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1244123	NM_152574.3(TTC39B):c.77+18862A>G	TTC39B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225250	NM_152574.3(TTC39B):c.77+18481T>G	TTC39B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3184352	NM_152574.3(TTC39B):c.52G>C (p.Glu18Gln)	TTC39B (E18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2