ClinVar for Gene (Select 6867) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324158	NM_006283.3(TACC1):c.924G>C (p.Glu308Asp)	TACC1 (E280D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3324157	NM_006283.3(TACC1):c.217C>T (p.Pro73Ser)	TACC1 (P28S +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3324156	NM_006283.3(TACC1):c.479C>T (p.Thr160Met)	TACC1 (T124M +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3324155	NM_006283.3(TACC1):c.2332A>G (p.Arg778Gly)	TACC1 (R368G +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324154	NM_006283.3(TACC1):c.580G>A (p.Glu194Lys)	TACC1 (E194K +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3173250	NM_006283.3(TACC1):c.983C>T (p.Thr328Ile)	TACC1 (T283I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3173249	NM_006283.3(TACC1):c.952C>G (p.Leu318Val)	TACC1 (L282V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3173248	NM_006283.3(TACC1):c.908A>G (p.Asn303Ser)	TACC1 (N303S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3173247	NM_006283.3(TACC1):c.85G>C (p.Glu29Gln)	TACC1 (E45Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173246	NM_006283.3(TACC1):c.817G>A (p.Glu273Lys)	TACC1 (E273K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3173245	NM_006283.3(TACC1):c.587T>C (p.Met196Thr)	TACC1 (M1T +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3173244	NM_006283.3(TACC1):c.488C>T (p.Ser163Leu)	TACC1 (S127L +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3173243	NM_006283.3(TACC1):c.320A>C (p.Glu107Ala)	TACC1 (E107A +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3173242	NM_006283.3(TACC1):c.275A>G (p.Gln92Arg)	TACC1 (Q108R +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3173241	NM_006283.3(TACC1):c.259C>T (p.Pro87Ser)	TACC1 (P51S +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3173240	NM_006283.3(TACC1):c.2276G>T (p.Ser759Ile)	TACC1 (S332I +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173239	NM_006283.3(TACC1):c.191C>A (p.Pro64His)	TACC1 (P19H +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3173238	NM_006283.3(TACC1):c.1846A>G (p.Thr616Ala)	TACC1 (T420A +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173237	NM_006283.3(TACC1):c.1792C>T (p.Leu598Phe)	TACC1 (L171F +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173236	NM_006283.3(TACC1):c.1772G>C (p.Ser591Thr)	TACC1 (S367T +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173234	NM_006283.3(TACC1):c.1613A>G (p.Asn538Ser)	TACC1 (N342S +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3173233	NM_006283.3(TACC1):c.1127C>T (p.Pro376Leu)	TACC1 (P348L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3173232	NM_006283.3(TACC1):c.1108C>A (p.Pro370Thr)	TACC1 (P334T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2659006	GRCh37/hg19 8p11.22-11.21(chr8:38602986-41615655)x1	ADAM18, ADAM2 +16 more	Copy number loss	not provided	GPathogenic
Select item 2604528	NM_006283.3(TACC1):c.212G>A (p.Arg71Gln)	TACC1 (R35Q +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2603331	NM_006283.3(TACC1):c.238C>G (p.Pro80Ala)	TACC1 (P35A +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2601040	NM_006283.3(TACC1):c.83G>T (p.Gly28Val)	TACC1 (G28V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596634	NM_006283.3(TACC1):c.681A>C (p.Arg227Ser)	TACC1 (R182S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595649	NM_006283.3(TACC1):c.704C>T (p.Pro235Leu)	TACC1 (P199L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2547393	NM_006283.3(TACC1):c.1118G>A (p.Arg373Gln)	TACC1 (R337Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533741	NM_006283.3(TACC1):c.1535C>T (p.Thr512Met)	TACC1 (T102M +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528431	NM_006283.3(TACC1):c.649A>G (p.Asn217Asp)	TACC1 (N217D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525712	NM_006283.3(TACC1):c.986G>A (p.Gly329Glu)	TACC1 (G345E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2523741	NM_006283.3(TACC1):c.146A>C (p.Lys49Thr)	TACC1 (K65T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522822	NM_006283.3(TACC1):c.1185C>A (p.Asn395Lys)	TACC1 (N350K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508447	NM_006283.3(TACC1):c.1070G>A (p.Gly357Asp)	TACC1 (G162D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2499616	NM_006283.3(TACC1):c.2186G>A (p.Arg729Gln)	TACC1 (R262Q +19 more)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance
Select item 2495486	NM_006283.3(TACC1):c.1009C>G (p.Leu337Val)	TACC1 (L301V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481915	NM_006283.3(TACC1):c.139G>A (p.Glu47Lys)	TACC1 (E47K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472101	NM_006283.3(TACC1):c.1342G>A (p.Val448Ile)	TACC1 (V448I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465332	NM_006283.3(TACC1):c.1784G>A (p.Gly595Glu)	TACC1 (G128E +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463026	NM_006283.3(TACC1):c.1564G>A (p.Glu522Lys)	TACC1 (E112K +11 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2459094	NM_006283.3(TACC1):c.499G>A (p.Gly167Arg)	TACC1 (G167R +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2456480	NM_006283.3(TACC1):c.2249A>G (p.Gln750Arg)	TACC1 (Q554R +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426105	NC_000008.10:g.(?_38117538)_(38961219_?)dup	ADAM9, DDHD2 +9 more	Duplication	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2425692	NC_000008.10:g.(?_37595441)_(38961219_?)dup	ADAM9, ADGRA2 +21 more	Duplication	Spastic paraplegia +3 more	GUncertain significance
Select item 2395487	NM_006283.3(TACC1):c.1742C>T (p.Ala581Val)	TACC1 (A114V +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386043	NM_006283.3(TACC1):c.1184A>G (p.Asn395Ser)	TACC1 (N367S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378999	NM_006283.3(TACC1):c.1387A>G (p.Ile463Val)	TACC1 (I427V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378498	NM_006283.3(TACC1):c.635A>G (p.Asp212Gly)	TACC1 (D167G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375640	NM_006283.3(TACC1):c.1372G>A (p.Ala458Thr)	TACC1 (A474T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372936	NM_006283.3(TACC1):c.1282C>A (p.Pro428Thr)	TACC1 (P383T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349243	NM_006283.3(TACC1):c.910G>A (p.Asp304Asn)	TACC1 (D276N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2327797	NM_006283.3(TACC1):c.1439A>T (p.Asp480Val)	TACC1 (D297V +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323995	NM_006283.3(TACC1):c.1573G>T (p.Gly525Cys)	TACC1 (G330C +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318588	NM_006283.3(TACC1):c.1895G>A (p.Arg632Gln)	TACC1 (R222Q +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304257	NM_006283.3(TACC1):c.206C>T (p.Pro69Leu)	TACC1 (P33L +4 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2304074	NM_006283.3(TACC1):c.2014A>G (p.Met672Val)	TACC1 (M245V +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302673	NM_006283.3(TACC1):c.1945A>G (p.Ile649Val)	TACC1 (I453V +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287082	NM_006283.3(TACC1):c.937T>C (p.Ser313Pro)	TACC1 (S329P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263472	NM_006283.3(TACC1):c.2150A>G (p.Gln717Arg)	TACC1 (Q250R +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255674	NM_006283.3(TACC1):c.787T>C (p.Ser263Pro)	TACC1 (S235P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223641	NM_006283.3(TACC1):c.1375A>G (p.Lys459Glu)	TACC1 (K264E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205289	NM_006283.3(TACC1):c.127G>T (p.Asp43Tyr)	TACC1 (D43Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527427	GRCh37/hg19 8p11.22-11.21(chr8:38430146-41294984)	ADAM18, ADAM2 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527425	GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)	ADGRA2, ADRB3 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 1455925	NC_000008.10:g.(?_37595441)_(38961219_?)del	ADAM9, ADGRA2 +21 more	Deletion	not provided	GPathogenic
Select item 1341169	GRCh37/hg19 8p11.23-11.22(chr8:38278747-38653613)x3	C8orf86, FGFR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 778393	NM_006283.3(TACC1):c.480G>A (p.Thr160=)	TACC1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 712917	NM_006283.3(TACC1):c.1145C>T (p.Ser382Phe)	TACC1 (S187F +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 688131	GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3	ADAM18, ADAM2 +54 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563546	GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3	ADGRA2, BAG4 +41 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442711	GRCh37/hg19 8p11.22-11.21(chr8:38430146-41298595)x1	ADAM18, ADAM2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 253803	GRCh37/hg19 8p11.23-11.22(chr8:37555526-38600788)x3	C8orf86, RAB11FIP1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic

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