28078[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 3143320	NM_001014979.3(CFAP119):c.950G>A (p.Arg317Gln)	CFAP119, PHKG2 (R317Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3143319	NM_001014979.3(CFAP119):c.881A>G (p.Gln294Arg)	CFAP119, PHKG2 (Q294R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143318	NM_001014979.3(CFAP119):c.857T>C (p.Val286Ala)	CFAP119, PHKG2 (V286A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143317	NM_001014979.3(CFAP119):c.851C>T (p.Thr284Ile)	CFAP119, PHKG2 (T284I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2646415	NM_001014979.3(CFAP119):c.836G>A (p.Arg279Gln)	CFAP119, PHKG2 (R279Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 318944	NM_001014979.3(CFAP119):c.829G>A (p.Val277Ile)	CFAP119, PHKG2 (V277I)	Single nucleotide variant (3 prime UTR variant +2 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318945	NM_001014979.3(CFAP119):c.818-33C>T	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GLikely benign
Select item 318946	NM_001014979.3(CFAP119):c.818-289T>C	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318947	NM_001014979.3(CFAP119):c.818-578G>A	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 2646416	NM_001014979.3(CFAP119):c.778G>C (p.Glu260Gln)	CFAP119, PHKG2 (E260Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3143316	NM_001014979.3(CFAP119):c.725C>T (p.Thr242Met)	CFAP119, PHKG2 (T242M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2492155	NM_001014979.3(CFAP119):c.710G>T (p.Trp237Leu)	CFAP119, PHKG2 (W237L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143315	NM_001014979.3(CFAP119):c.685A>G (p.Met229Val)	CFAP119, PHKG2 (M229V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143314	NM_001014979.3(CFAP119):c.658G>C (p.Val220Leu)	CFAP119, PHKG2 (V220L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 318948	NM_001014979.3(CFAP119):c.658-4C>T	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 3143313	NM_001014979.3(CFAP119):c.643G>A (p.Val215Ile)	CFAP119, PHKG2 (V215I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143310	NM_001014979.3(CFAP119):c.601G>A (p.Val201Met)	CFAP119, PHKG2 (V201M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2472615	NM_001014979.3(CFAP119):c.586G>T (p.Ala196Ser)	CFAP119, PHKG2 (A196S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143308	NM_001014979.3(CFAP119):c.579G>C (p.Gln193His)	CFAP119, PHKG2 (Q193H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2646417	NM_001014979.3(CFAP119):c.558C>T (p.Ile186=)	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3143306	NM_001014979.3(CFAP119):c.541C>T (p.Arg181Trp)	CFAP119, PHKG2 (R181W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 318949	NM_001014979.3(CFAP119):c.540+18A>G	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GLikely benign
Select item 318950	NM_001014979.3(CFAP119):c.512C>T (p.Thr171Ile)	CFAP119, PHKG2 (T171I)	Single nucleotide variant (3 prime UTR variant +2 more)	Glycogen phosphorylase kinase deficiency +1 more	GUncertain significance
Select item 2464296	NM_001014979.3(CFAP119):c.379G>A (p.Ala127Thr)	CFAP119, LOC126862330 +1 more (A127T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143305	NM_001014979.3(CFAP119):c.370T>C (p.Phe124Leu)	CFAP119, LOC126862330 +1 more (F124L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143304	NM_001014979.3(CFAP119):c.352G>A (p.Ala118Thr)	CFAP119, LOC126862330 +1 more (A118T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143303	NM_001014979.3(CFAP119):c.298G>C (p.Glu100Gln)	CFAP119, LOC126862330 +1 more (E100Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 318951	NM_001014979.3(CFAP119):c.236+222T>C	CFAP119, LOC126862330 +1 more	Single nucleotide variant (intron variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318952	NM_001014979.3(CFAP119):c.236+113A>G	CFAP119, LOC126862330 +1 more	Single nucleotide variant (intron variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 3143302	NM_001014979.3(CFAP119):c.128G>A (p.Arg43His)	CFAP119, RNF40 (R43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143312	NM_001014979.3(CFAP119):c.62T>A (p.Leu21His)	CFAP119, RNF40 (L21H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143311	NM_001014979.3(CFAP119):c.61C>A (p.Leu21Ile)	CFAP119, RNF40 (L21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143307	NM_001014979.3(CFAP119):c.56A>G (p.Glu19Gly)	CFAP119, RNF40 (E19G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3063681	NC_000016.9:g.(?_30759745)_(30772498_?)dup	CFAP119, PHKG2	Duplication	not specified	GUncertain significance
Select item 2427156	NC_000016.9:g.(?_30712146)_(31021717_?)dup	FBXL19, HSD3B7 +10 more	Duplication	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1809415	GRCh37/hg19 16p11.2(chr16:30460206-30906733)x3	BCL7C, CFAP119 +13 more	Copy number gain	not provided	GUncertain significance
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443355	GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	BCL7C, CFAP119 +18 more	Copy number loss	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 394674	GRCh37/hg19 16p11.2(chr16:30515442-30792856)x1	CFAP119, FBRS +12 more	Copy number loss	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 54