ClinVar for Gene (Select 11281) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 3062951	GRCh37/hg19 7p14.1(chr7:39481317-39511176)x1	POU6F2	Copy number loss	not specified	GUncertain significance
Select item 3060981	NM_001370959.1(POU6F2):c.647AGC[9] (p.Gln225del)	POU6F2 (Q196del +1 more)	Microsatellite (inframe deletion)	POU6F2-related condition	GBenign
Select item 3060957	NM_001370959.1(POU6F2):c.1146A>G (p.Pro382=)	POU6F2	Single nucleotide variant (synonymous variant)	POU6F2-related condition	GBenign
Select item 3060258	NM_001370959.1(POU6F2):c.1114-7C>T	POU6F2	Single nucleotide variant (intron variant)	POU6F2-related condition	GBenign
Select item 3059868	NM_001370959.1(POU6F2):c.683C>T (p.Pro228Leu)	POU6F2 (P199L +1 more)	Single nucleotide variant (missense variant)	POU6F2-related condition	GBenign
Select item 3059450	NM_001370959.1(POU6F2):c.1284G>A (p.Gln428=)	POU6F2	Single nucleotide variant (synonymous variant)	POU6F2-related condition	GBenign
Select item 3058646	NM_001370959.1(POU6F2):c.1008G>A (p.Ala336=)	POU6F2	Single nucleotide variant (synonymous variant)	POU6F2-related condition	GLikely benign
Select item 3057716	NM_001370959.1(POU6F2):c.719C>T (p.Ala240Val)	POU6F2 (A211V +1 more)	Single nucleotide variant (missense variant)	POU6F2-related condition	GLikely benign
Select item 3057617	NM_001370959.1(POU6F2):c.638T>A (p.Leu213His)	POU6F2 (L184H +1 more)	Single nucleotide variant (missense variant)	POU6F2-related condition	GLikely benign
Select item 3046941	NM_001370959.1(POU6F2):c.639C>G (p.Leu213=)	POU6F2	Single nucleotide variant (synonymous variant)	POU6F2-related condition	GLikely benign
Select item 3040401	NM_001370959.1(POU6F2):c.891G>A (p.Gln297=)	POU6F2	Single nucleotide variant (synonymous variant)	POU6F2-related condition	GLikely benign
Select item 3038690	NM_001370959.1(POU6F2):c.1170C>T (p.Ser390=)	POU6F2	Single nucleotide variant (synonymous variant)	POU6F2-related condition	GLikely benign
Select item 3032705	NM_001370959.1(POU6F2):c.844C>T (p.Pro282Ser)	POU6F2 (P253S +1 more)	Single nucleotide variant (missense variant)	POU6F2-related condition	GUncertain significance
Select item 2657395	NM_001370959.1(POU6F2):c.1529T>C (p.Leu510Pro)	POU6F2 (L481P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657394	NM_001370959.1(POU6F2):c.930A>G (p.Gly310=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636728	NM_001370959.1(POU6F2):c.1541G>A (p.Arg514Gln)	POU6F2 (R485Q +1 more)	Single nucleotide variant (missense variant)	POU6F2-related condition	GUncertain significance
Select item 2604367	NM_001370959.1(POU6F2):c.1723A>T (p.Ser575Cys)	POU6F2 (S546C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602424	NM_001370959.1(POU6F2):c.1421G>A (p.Arg474Gln)	POU6F2 (R445Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574000	NM_001370959.1(POU6F2):c.1420C>T (p.Arg474Trp)	POU6F2 (R445W +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2573999	NM_001370959.1(POU6F2):c.440A>G (p.Asn147Ser)	POU6F2 (N118S +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2573997	NM_001370959.1(POU6F2):c.1567C>T (p.Arg523Trp)	POU6F2 (R494W +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2573995	NM_001370959.1(POU6F2):c.1093G>C (p.Val365Leu)	POU6F2 (V336L +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2538266	NM_001370959.1(POU6F2):c.1310C>T (p.Pro437Leu)	POU6F2 (P437L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2533229	NM_001370959.1(POU6F2):c.1267C>A (p.Pro423Thr)	POU6F2 (P394T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499169	NM_001370959.1(POU6F2):c.947C>A (p.Pro316Gln)	POU6F2 (P287Q +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2499168	NM_001370959.1(POU6F2):c.1972A>C (p.Asn658His)	POU6F2 (N629H +2 more)	Single nucleotide variant (missense variant)	POU6F2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2499167	NM_001370959.1(POU6F2):c.308C>T (p.Pro103Leu)	POU6F2 (P103L +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2499166	NM_001370959.1(POU6F2):c.362G>A (p.Gly121Glu)	POU6F2 (G121E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2499165	NM_001370959.1(POU6F2):c.1888G>A (p.Gly630Arg)	POU6F2 (G565R +2 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2495609	NM_001370959.1(POU6F2):c.860A>G (p.Gln287Arg)	POU6F2 (Q287R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484778	NM_001370959.1(POU6F2):c.1628G>T (p.Gly543Val)	POU6F2 (G543V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478082	NM_001370959.1(POU6F2):c.1809C>G (p.Ile603Met)	POU6F2 (I603M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471806	NM_001370959.1(POU6F2):c.283A>G (p.Arg95Gly)	POU6F2 (R66G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389933	NM_001370959.1(POU6F2):c.1826G>A (p.Arg609Gln)	POU6F2 (R580Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382461	NM_001370959.1(POU6F2):c.956C>T (p.Pro319Leu)	POU6F2 (P290L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380512	NM_001370959.1(POU6F2):c.1427C>G (p.Ala476Gly)	POU6F2 (A447G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366202	NM_001370959.1(POU6F2):c.1021A>G (p.Met341Val)	POU6F2 (M341V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341583	NM_001370959.1(POU6F2):c.905C>T (p.Pro302Leu)	POU6F2 (P273L +1 more)	Single nucleotide variant (missense variant)	POU6F2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2283289	NM_001370959.1(POU6F2):c.725C>T (p.Ser242Leu)	POU6F2 (S213L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247828	NM_001370959.1(POU6F2):c.434C>T (p.Ala145Val)	POU6F2 (A116V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245416	NM_001370959.1(POU6F2):c.1682T>C (p.Phe561Ser)	POU6F2 (F532S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243351	NM_001370959.1(POU6F2):c.119C>A (p.Ala40Asp)	POU6F2 (A11D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233435	NM_001370959.1(POU6F2):c.197C>T (p.Thr66Ile)	POU6F2 (T37I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226050	NM_001370959.1(POU6F2):c.404T>C (p.Val135Ala)	POU6F2 (V106A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205617	NM_001370959.1(POU6F2):c.878C>A (p.Ser293Tyr)	POU6F2 (S293Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205616	NM_001370959.1(POU6F2):c.877T>G (p.Ser293Ala)	POU6F2 (S293A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527351	GRCh37/hg19 7p14.1(chr7:38883386-39488125)	POU6F2, VPS41	Copy number gain	not specified	GUncertain significance
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340861	GRCh37/hg19 7p14.1(chr7:38728844-40069964)x3	CDK13, POU6F2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814961	GRCh37/hg19 7p14.1(chr7:38895125-39488125)x4	VPS41, POU6F2	Copy number gain	not provided	GUncertain significance
Select item 814958	GRCh37/hg19 7p14.1(chr7:37202606-39500521)x3	ELMO1, AMPH +8 more	Copy number gain	not provided	GUncertain significance
Select item 797440	NM_001370959.1(POU6F2):c.1263C>T (p.Ile421=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793351	NM_001370959.1(POU6F2):c.276C>T (p.Phe92=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785213	NM_001370959.1(POU6F2):c.1312G>A (p.Gly438Ser)	POU6F2 (G438S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778300	NM_001370959.1(POU6F2):c.692A>G (p.Asn231Ser)	POU6F2 (N202S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776217	NM_001370959.1(POU6F2):c.2002G>A (p.Glu668Lys)	POU6F2 (E603K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 759911	NM_001370959.1(POU6F2):c.720G>T (p.Ala240=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755796	NM_001370959.1(POU6F2):c.141G>A (p.Leu47=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754540	NM_001370959.1(POU6F2):c.1140T>C (p.Pro380=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741773	NM_001370959.1(POU6F2):c.1314C>G (p.Gly438=)	POU6F2	Single nucleotide variant (synonymous variant)	POU6F2-related condition +1 more	GLikely benign
Select item 739065	NM_001370959.1(POU6F2):c.453C>T (p.Leu151=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736384	NM_001370959.1(POU6F2):c.947C>T (p.Pro316Leu)	POU6F2 (P316L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 731602	NM_001370959.1(POU6F2):c.1658+7C>T	POU6F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729525	NM_001370959.1(POU6F2):c.789G>T (p.Gln263His)	POU6F2 (Q234H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728600	NM_001370959.1(POU6F2):c.1632C>T (p.Pro544=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719958	NM_001370959.1(POU6F2):c.821C>T (p.Ala274Val)	POU6F2 (A274V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717220	NM_001370959.1(POU6F2):c.348C>G (p.Pro116=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713597	NM_001370959.1(POU6F2):c.645C>G (p.Leu215=)	POU6F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713596	NM_001370959.1(POU6F2):c.644T>A (p.Leu215His)	POU6F2 (L186H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713595	NM_001370959.1(POU6F2):c.638T>G (p.Leu213Arg)	POU6F2 (L184R +1 more)	Single nucleotide variant (missense variant)	POU6F2-related condition +1 more	GLikely benign
Select item 709062	NM_001370959.1(POU6F2):c.1449C>T (p.Ser483=)	POU6F2	Single nucleotide variant (synonymous variant)	POU6F2-related condition +1 more	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 443914	GRCh37/hg19 7p14.1(chr7:38984924-39087537)x3	POU6F2	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442616	GRCh37/hg19 7p14.1(chr7:38902462-39488735)x3	POU6F2, VPS41	Copy number gain	See cases	GUncertain significance
Select item 442581	GRCh37/hg19 7p14.1(chr7:39040397-39277606)x1	POU6F2	Copy number loss	See cases	GUncertain significance
Select item 442557	GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1	AMPH, CDK13 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 442220	GRCh37/hg19 7p14.1(chr7:39326890-39398875)x3	POU6F2	Copy number gain	See cases	GUncertain significance
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 441054	GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1	AMPH, CDK13 +6 more	Copy number loss	not provided	Gnot provided
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 151971	GRCh38/hg38 7p14.1(chr7:39251052-40641073)x1	LOC113748390, LOC121175340 +37 more	Copy number loss	See cases	GUncertain significance
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	AEBP1, BLVRA +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 1872	NM_001370959.1(POU6F2):c.62C>G (p.Ser21Ter)	POU6F2 (S21*)	Single nucleotide variant (nonsense +1 more)	Wilms tumor 5	GPathogenic
Select item 1871	NM_001370959.1(POU6F2):c.660G>T (p.Gln220His)	POU6F2 (Q191H +1 more)	Single nucleotide variant (missense variant)	Wilms tumor 5	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 100