ClinVar for Gene (Select 158219) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2685337	GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1	CCDC171, CER1 +10 more	Copy number loss	not provided	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2659089	NM_152574.3(TTC39B):c.174-8A>G	TTC39B	Single nucleotide variant (intron variant)	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 2659087	NM_152574.3(TTC39B):c.228A>G (p.Ala76=)	TTC39B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2617733	NM_152574.3(TTC39B):c.429A>C (p.Lys143Asn)	TTC39B (K44N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616542	NM_152574.3(TTC39B):c.317A>G (p.Tyr106Cys)	TTC39B (Y106C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614229	NM_152574.3(TTC39B):c.1364G>A (p.Arg455Gln)	TTC39B (R356Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605860	NM_152574.3(TTC39B):c.1256T>G (p.Val419Gly)	TTC39B (V350G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605859	NM_152574.3(TTC39B):c.1255G>T (p.Val419Leu)	TTC39B (V406L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2600576	NM_152574.3(TTC39B):c.607A>G (p.Thr203Ala)	TTC39B (T104A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599028	NM_152574.3(TTC39B):c.698G>C (p.Gly233Ala)	TTC39B (G233A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559855	NM_152574.2(TTC39B):c.95C>T (p.Ser32Phe)	TTC39B (S32F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525463	NM_152574.3(TTC39B):c.1367G>A (p.Arg456His)	TTC39B (R456H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2474335	NM_152574.3(TTC39B):c.956T>C (p.Phe319Ser)	TTC39B (F220S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473747	NM_152574.3(TTC39B):c.-72C>G	TTC39B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2466948	NM_152574.3(TTC39B):c.1138A>T (p.Asn380Tyr)	TTC39B (N281Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455706	NM_152574.3(TTC39B):c.407C>T (p.Thr136Ile)	TTC39B (T136I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408888	NM_152574.3(TTC39B):c.1271A>G (p.Asn424Ser)	TTC39B (N325S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408784	NM_152574.3(TTC39B):c.1708T>C (p.Tyr570His)	TTC39B (Y471H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398685	NM_152574.3(TTC39B):c.941G>A (p.Arg314His)	TTC39B (R215H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394240	NM_152574.3(TTC39B):c.890A>T (p.Tyr297Phe)	TTC39B (Y198F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386412	NM_152574.3(TTC39B):c.262G>A (p.Ala88Thr)	TTC39B (A88T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2375119	NM_152574.3(TTC39B):c.1240C>T (p.Pro414Ser)	TTC39B (P414S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2340463	NM_152574.3(TTC39B):c.385G>T (p.Ala129Ser)	TTC39B (A129S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333135	NM_152574.3(TTC39B):c.-84G>T	TTC39B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2323959	NM_152574.3(TTC39B):c.1713A>T (p.Lys571Asn)	TTC39B (K571N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310194	NM_152574.2(TTC39B):c.76G>C (p.Gly26Arg)	TTC39B (G26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310135	NM_152574.3(TTC39B):c.338A>G (p.Gln113Arg)	TTC39B (Q44R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293661	NM_152574.3(TTC39B):c.1679C>T (p.Pro560Leu)	TTC39B (P558L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288136	NM_152574.3(TTC39B):c.152G>A (p.Arg51His)	TTC39B (R51H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2287889	NM_152574.3(TTC39B):c.1000G>T (p.Ala334Ser)	TTC39B (A265S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282291	NM_152574.3(TTC39B):c.779T>C (p.Ile260Thr)	TTC39B (I191T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274812	NM_152574.3(TTC39B):c.1333C>T (p.Pro445Ser)	TTC39B (P376S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273176	NM_152574.3(TTC39B):c.401T>C (p.Leu134Ser)	TTC39B (L35S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270772	NM_152574.3(TTC39B):c.751G>C (p.Ala251Pro)	TTC39B (A251P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270540	NM_152574.3(TTC39B):c.1429G>C (p.Val477Leu)	TTC39B (V408L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254798	NM_152574.3(TTC39B):c.1460G>T (p.Arg487Ile)	TTC39B (R418I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253783	NM_152574.2(TTC39B):c.53C>A (p.Ala18Glu)	TTC39B (A18E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225167	NM_152574.2(TTC39B):c.73C>G (p.Pro25Ala)	TTC39B (P25A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217103	NM_152574.3(TTC39B):c.632G>C (p.Cys211Ser)	TTC39B (C211S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203969	NM_152574.3(TTC39B):c.1590G>T (p.Lys530Asn)	TTC39B (K431N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808355	GRCh37/hg19 9p22.3(chr9:15241646-15504917)x3	PSIP1, SNAPC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703681	GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)	ADAMTSL1, BNC2 +38 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527509	GRCh37/hg19 9p24.1-22.1(chr9:6788084-19213960)	ADAMTSL1, BNC2 +20 more	Copy number loss	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	RIGI, RLN1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527484	GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	AK3, CD274 +45 more	Copy number loss	not specified	GPathogenic
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 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	ADAMTSL1, AK3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 981213	GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1	BNC2, CCDC171 +7 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	AK3, BNC2 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 980894	GRCh37/hg19 9p22.3(chr9:14986782-15296450)x1	TTC39B	Copy number loss	not provided	GLikely benign
Select item 815238	GRCh37/hg19 9p22.3(chr9:15241645-15504916)x3	TTC39B, SNAPC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815237	GRCh37/hg19 9p22.3(chr9:15230481-15371734)x1	TTC39B	Copy number loss	not provided	GLikely benign
Select item 815235	GRCh37/hg19 9p22.3(chr9:14420900-15379492)x1	TTC39B, ZDHHC21 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	TPD52L3, IL33 +51 more	Copy number loss	not provided	GPathogenic
Select item 785280	NM_152574.3(TTC39B):c.777T>C (p.Phe259=)	TTC39B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 776411	NM_152574.3(TTC39B):c.1221A>G (p.Ala407=)	TTC39B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 768279	NM_152574.3(TTC39B):c.1620A>G (p.Leu540=)	TTC39B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	ACER2, ACO1 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	IFNA1, IFNA10 +204 more	Copy number gain	not provided	GPathogenic
Select item 684956	GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3	MLANA, ZDHHC21 +59 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +195 more	Copy number gain	not provided	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ANKRD18B, APTX +194 more	Copy number gain	not provided	GPathogenic

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