12398[HGNC] - ClinVar

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

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 57384	GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1	CD101, CD101-AS1 +67 more	Copy number loss	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 2385974	NM_003594.4(TTF2):c.23A>G (p.Glu8Gly)	TTF2 (E8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775591	NM_003594.4(TTF2):c.83G>A (p.Ser28Asn)	TTF2 (S28N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3184441	NM_003594.4(TTF2):c.150C>G (p.Cys50Trp)	TTF2 (C50W)	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 3184451	NM_003594.4(TTF2):c.259C>T (p.Arg87Cys)	TTF2 (R87C)	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 741107	NM_003594.4(TTF2):c.392A>G (p.Lys131Arg)	TTF2 (K131R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2518114	NM_003594.4(TTF2):c.478G>A (p.Asp160Asn)	TTF2 (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2303380	NM_003594.4(TTF2):c.507G>C (p.Gln169His)	TTF2 (Q169H)	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 775592	NM_003594.4(TTF2):c.638A>G (p.Lys213Arg)	TTF2 (K213R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2206815	NM_003594.4(TTF2):c.697T>C (p.Ser233Pro)	TTF2 (S233P)	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 3184459	NM_003594.4(TTF2):c.792A>C (p.Gln264His)	TTF2 (Q264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767690	NM_003594.4(TTF2):c.818G>C (p.Ser273Thr)	TTF2 (S273T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2362617	NM_003594.4(TTF2):c.851A>T (p.Glu284Val)	TTF2 (E284V)	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 2593892	NM_003594.4(TTF2):c.889G>A (p.Asp297Asn)	TTF2 (D297N)	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 2319430	NM_003594.4(TTF2):c.973C>G (p.Pro325Ala)	TTF2 (P325A)	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 733878	NM_003594.4(TTF2):c.1029G>C (p.Glu343Asp)	TTF2 (E343D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2290805	NM_003594.4(TTF2):c.1105C>T (p.Pro369Ser)	TTF2 (P369S)	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 2253670	NM_003594.4(TTF2):c.1158C>G (p.Phe386Leu)	TTF2 (F386L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3184439	NM_003594.4(TTF2):c.1241G>A (p.Arg414His)	TTF2 (R414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787213	NM_003594.4(TTF2):c.1261C>T (p.Leu421=)	TTF2	Single nucleotide variant (synonymous 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 719890	NM_003594.4(TTF2):c.1483C>T (p.Leu495Phe)	TTF2 (L495F)	Single nucleotide variant (missense variant)	not provided	GBenign
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 781584	NM_003594.4(TTF2):c.1490G>A (p.Arg497His)	TTF2 (R497H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 2341271	NM_003594.4(TTF2):c.1693G>A (p.Gly565Arg)	LOC126805842, TTF2 (G565R)	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 3024802	NM_003594.4(TTF2):c.1784-7T>A	TTF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3184443	NM_003594.4(TTF2):c.1948G>A (p.Ala650Thr)	TTF2 (A650T)	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 2341555	NM_003594.4(TTF2):c.2024A>G (p.His675Arg)	TTF2 (H675R)	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 3184446	NM_003594.4(TTF2):c.2038G>T (p.Asp680Tyr)	TTF2 (D680Y)	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 3184447	NM_003594.4(TTF2):c.2191T>A (p.Trp731Arg)	TTF2 (W731R)	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 3184449	NM_003594.4(TTF2):c.2333C>T (p.Ser778Leu)	TTF2 (S778L)	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 2570199	NM_003594.4(TTF2):c.2399A>G (p.Asn800Ser)	TTF2 (N800S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639030	NM_003594.4(TTF2):c.2463A>C (p.Thr821=)	TTF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2395818	NM_003594.4(TTF2):c.2569G>T (p.Val857Leu)	TTF2 (V857L)	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 2323191	NM_003594.4(TTF2):c.2686G>T (p.Gly896Trp)	TTF2 (G896W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3184452	NM_003594.4(TTF2):c.2726C>T (p.Pro909Leu)	TTF2 (P909L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732913	NM_003594.4(TTF2):c.2733C>T (p.Ser911=)	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 3184453	NM_003594.4(TTF2):c.2771G>A (p.Arg924His)	TTF2 (R924H)	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 2538375	NM_003594.4(TTF2):c.2839C>G (p.Leu947Val)	TTF2 (L947V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786857	NM_003594.4(TTF2):c.2853G>A (p.Leu951=)	TTF2	Single nucleotide variant (synonymous 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 3184454	NM_003594.4(TTF2):c.2891G>A (p.Arg964His)	TTF2 (R964H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3184456	NM_003594.4(TTF2):c.2911A>G (p.Thr971Ala)	TTF2 (T971A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 710304	NM_003594.4(TTF2):c.2957G>A (p.Gly986Asp)	TTF2 (G986D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 789693	NM_003594.4(TTF2):c.2960T>C (p.Met987Thr)	TTF2 (M987T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639031	NM_003594.4(TTF2):c.3018T>C (p.Asn1006=)	TTF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2406113	NM_003594.4(TTF2):c.3147G>A (p.Met1049Ile)	TTF2 (M1049I)	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 2329398	NM_003594.4(TTF2):c.3211G>A (p.Gly1071Arg)	TTF2 (G1071R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063011	GRCh37/hg19 1p13.1-12(chr1:117338180-117990154)x1	CD101, MAN1A2 +4 more	Copy number loss	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 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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 92