ClinVar for Gene (Select 8458) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329939	NM_003594.4(TTF2):c.451G>C (p.Ala151Pro)	TTF2 (A151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329938	NM_003594.4(TTF2):c.232T>A (p.Cys78Ser)	TTF2 (C78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329937	NM_003594.4(TTF2):c.2066A>G (p.Tyr689Cys)	TTF2 (Y689C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329936	NM_003594.4(TTF2):c.3452T>C (p.Leu1151Pro)	TTF2 (L1151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329935	NM_003594.4(TTF2):c.1315A>G (p.Lys439Glu)	TTF2 (K439E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329934	NM_003594.4(TTF2):c.2302C>G (p.Pro768Ala)	TTF2 (P768A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329933	NM_003594.4(TTF2):c.1436T>C (p.Phe479Ser)	TTF2 (F479S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329932	NM_003594.4(TTF2):c.1492C>T (p.Arg498Cys)	TTF2 (R498C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329930	NM_003594.4(TTF2):c.743A>C (p.Gln248Pro)	TTF2 (Q248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329929	NM_003594.4(TTF2):c.1751G>A (p.Arg584Gln)	TTF2 (R584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184459	NM_003594.4(TTF2):c.792A>C (p.Gln264His)	TTF2 (Q264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184458	NM_003594.4(TTF2):c.476G>A (p.Gly159Glu)	TTF2 (G159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184457	NM_003594.4(TTF2):c.390C>A (p.Asp130Glu)	TTF2 (D130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184456	NM_003594.4(TTF2):c.2911A>G (p.Thr971Ala)	TTF2 (T971A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184454	NM_003594.4(TTF2):c.2891G>A (p.Arg964His)	TTF2 (R964H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184453	NM_003594.4(TTF2):c.2771G>A (p.Arg924His)	TTF2 (R924H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184452	NM_003594.4(TTF2):c.2726C>T (p.Pro909Leu)	TTF2 (P909L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184451	NM_003594.4(TTF2):c.259C>T (p.Arg87Cys)	TTF2 (R87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184450	NM_003594.4(TTF2):c.2351G>A (p.Arg784His)	TTF2 (R784H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184449	NM_003594.4(TTF2):c.2333C>T (p.Ser778Leu)	TTF2 (S778L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184448	NM_003594.4(TTF2):c.2281C>T (p.Arg761Cys)	TTF2 (R761C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184447	NM_003594.4(TTF2):c.2191T>A (p.Trp731Arg)	TTF2 (W731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184446	NM_003594.4(TTF2):c.2038G>T (p.Asp680Tyr)	TTF2 (D680Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184445	NM_003594.4(TTF2):c.2030C>A (p.Pro677Gln)	TTF2 (P677Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184444	NM_003594.4(TTF2):c.2015A>G (p.Tyr672Cys)	TTF2 (Y672C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184443	NM_003594.4(TTF2):c.1948G>A (p.Ala650Thr)	TTF2 (A650T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184442	NM_003594.4(TTF2):c.1643G>A (p.Arg548His)	LOC126805842, TTF2 (R548H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184441	NM_003594.4(TTF2):c.150C>G (p.Cys50Trp)	TTF2 (C50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184440	NM_003594.4(TTF2):c.1487C>T (p.Pro496Leu)	TTF2 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184439	NM_003594.4(TTF2):c.1241G>A (p.Arg414His)	TTF2 (R414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184438	NM_003594.4(TTF2):c.1205C>A (p.Ser402Tyr)	TTF2 (S402Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063011	GRCh37/hg19 1p13.1-12(chr1:117338180-117990154)x1	CD101, MAN1A2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3024802	NM_003594.4(TTF2):c.1784-7T>A	TTF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2639031	NM_003594.4(TTF2):c.3018T>C (p.Asn1006=)	TTF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639030	NM_003594.4(TTF2):c.2463A>C (p.Thr821=)	TTF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593892	NM_003594.4(TTF2):c.889G>A (p.Asp297Asn)	TTF2 (D297N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570199	NM_003594.4(TTF2):c.2399A>G (p.Asn800Ser)	TTF2 (N800S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539767	NM_003594.4(TTF2):c.2110C>G (p.Pro704Ala)	TTF2 (P704A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538375	NM_003594.4(TTF2):c.2839C>G (p.Leu947Val)	TTF2 (L947V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524488	NM_003594.4(TTF2):c.997G>A (p.Ala333Thr)	TTF2 (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518114	NM_003594.4(TTF2):c.478G>A (p.Asp160Asn)	TTF2 (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515349	NM_003594.4(TTF2):c.3178G>A (p.Gly1060Ser)	TTF2 (G1060S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493681	NM_003594.4(TTF2):c.1775G>T (p.Gly592Val)	TTF2 (G592V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470521	NM_003594.4(TTF2):c.1057G>A (p.Asp353Asn)	TTF2 (D353N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467642	NM_003594.4(TTF2):c.1886C>T (p.Thr629Met)	TTF2 (T629M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463154	NM_003594.4(TTF2):c.584A>G (p.Lys195Arg)	TTF2 (K195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408060	NM_003594.4(TTF2):c.947G>A (p.Arg316Gln)	TTF2 (R316Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406516	NM_003594.4(TTF2):c.2933T>C (p.Phe978Ser)	TTF2 (F978S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406113	NM_003594.4(TTF2):c.3147G>A (p.Met1049Ile)	TTF2 (M1049I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395818	NM_003594.4(TTF2):c.2569G>T (p.Val857Leu)	TTF2 (V857L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385974	NM_003594.4(TTF2):c.23A>G (p.Glu8Gly)	TTF2 (E8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362617	NM_003594.4(TTF2):c.851A>T (p.Glu284Val)	TTF2 (E284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354924	NM_003594.4(TTF2):c.3106T>G (p.Tyr1036Asp)	TTF2 (Y1036D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349773	NM_003594.4(TTF2):c.2902C>T (p.Pro968Ser)	TTF2 (P968S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341555	NM_003594.4(TTF2):c.2024A>G (p.His675Arg)	TTF2 (H675R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341271	NM_003594.4(TTF2):c.1693G>A (p.Gly565Arg)	LOC126805842, TTF2 (G565R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329398	NM_003594.4(TTF2):c.3211G>A (p.Gly1071Arg)	TTF2 (G1071R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323191	NM_003594.4(TTF2):c.2686G>T (p.Gly896Trp)	TTF2 (G896W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323190	NM_003594.4(TTF2):c.2639C>G (p.Ser880Cys)	TTF2 (S880C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322881	NM_003594.4(TTF2):c.2469C>A (p.Asp823Glu)	TTF2 (D823E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319430	NM_003594.4(TTF2):c.973C>G (p.Pro325Ala)	TTF2 (P325A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316715	NM_003594.4(TTF2):c.98G>A (p.Arg33Gln)	TTF2 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316547	NM_003594.4(TTF2):c.1121C>G (p.Ser374Trp)	TTF2 (S374W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303380	NM_003594.4(TTF2):c.507G>C (p.Gln169His)	TTF2 (Q169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290805	NM_003594.4(TTF2):c.1105C>T (p.Pro369Ser)	TTF2 (P369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290001	NM_003594.4(TTF2):c.857C>T (p.Thr286Met)	TTF2 (T286M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288787	NM_003594.4(TTF2):c.2818A>G (p.Met940Val)	TTF2 (M940V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255107	NM_003594.4(TTF2):c.835G>A (p.Gly279Arg)	TTF2 (G279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253670	NM_003594.4(TTF2):c.1158C>G (p.Phe386Leu)	TTF2 (F386L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242981	NM_003594.4(TTF2):c.648T>G (p.Phe216Leu)	TTF2 (F216L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234352	NM_003594.4(TTF2):c.2705A>G (p.His902Arg)	TTF2 (H902R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213523	NM_003594.4(TTF2):c.781C>A (p.Leu261Ile)	TTF2 (L261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208083	NM_003594.4(TTF2):c.235A>G (p.Ile79Val)	TTF2 (I79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206815	NM_003594.4(TTF2):c.697T>C (p.Ser233Pro)	TTF2 (S233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808955	GRCh37/hg19 1p13.1-12(chr1:117590849-117994398)x3	MAN1A2, TRIM45 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 789693	NM_003594.4(TTF2):c.2960T>C (p.Met987Thr)	TTF2 (M987T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787529	NM_003594.4(TTF2):c.2854G>A (p.Glu952Lys)	TTF2 (E952K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787213	NM_003594.4(TTF2):c.1261C>T (p.Leu421=)	TTF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786857	NM_003594.4(TTF2):c.2853G>A (p.Leu951=)	TTF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783943	NM_003594.4(TTF2):c.2740G>A (p.Val914Ile)	TTF2 (V914I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781584	NM_003594.4(TTF2):c.1490G>A (p.Arg497His)	TTF2 (R497H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 777327	NM_003594.4(TTF2):c.481C>G (p.Gln161Glu)	TTF2 (Q161E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775592	NM_003594.4(TTF2):c.638A>G (p.Lys213Arg)	TTF2 (K213R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775591	NM_003594.4(TTF2):c.83G>A (p.Ser28Asn)	TTF2 (S28N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767690	NM_003594.4(TTF2):c.818G>C (p.Ser273Thr)	TTF2 (S273T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 746666	NM_003594.4(TTF2):c.1428G>A (p.Gln476=)	TTF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741107	NM_003594.4(TTF2):c.392A>G (p.Lys131Arg)	TTF2 (K131R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733878	NM_003594.4(TTF2):c.1029G>C (p.Glu343Asp)	TTF2 (E343D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 732913	NM_003594.4(TTF2):c.2733C>T (p.Ser911=)	TTF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724314	NM_003594.4(TTF2):c.3381A>T (p.Leu1127Phe)	TTF2 (L1127F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719890	NM_003594.4(TTF2):c.1483C>T (p.Leu495Phe)	TTF2 (L495F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710304	NM_003594.4(TTF2):c.2957G>A (p.Gly986Asp)	TTF2 (G986D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 148763	GRCh38/hg38 1p13.1-12(chr1:116752007-117309842)x3	CD101, CD101-AS1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic

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