ClinVar for Gene (Select 5209) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211572	NM_004566.4(PFKFB3):c.589A>G (p.Ser197Gly)	PFKFB3 (S177G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211571	NM_004566.4(PFKFB3):c.247A>G (p.Ser83Gly)	PFKFB3 (S97G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211570	NM_004566.4(PFKFB3):c.1283G>A (p.Arg428His)	PFKFB3 (R245H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211569	NM_004566.4(PFKFB3):c.1222C>A (p.Pro408Thr)	PFKFB3 (P225T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211568	NM_004566.4(PFKFB3):c.1202A>T (p.Asp401Val)	PFKFB3 (D218V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3063136	GRCh37/hg19 10p15.1(chr10:5971020-6231793)x3	FBH1, IL15RA +3 more	Copy number gain	not specified	GUncertain significance
Select item 2613329	NM_004566.4(PFKFB3):c.61C>T (p.Pro21Ser)	LOC130003251, PFKFB3 (P21S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599295	NM_004566.4(PFKFB3):c.967G>A (p.Glu323Lys)	PFKFB3 (E337K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593212	NM_004566.4(PFKFB3):c.935G>A (p.Arg312Gln)	PFKFB3 (R129Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480677	NM_004566.4(PFKFB3):c.458C>T (p.Ser153Leu)	PFKFB3 (S167L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459501	NM_004566.4(PFKFB3):c.332A>G (p.Lys111Arg)	PFKFB3 (K125R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388391	NM_004566.4(PFKFB3):c.210C>A (p.Asn70Lys)	PFKFB3 (N84K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385746	NM_004566.4(PFKFB3):c.1249G>A (p.Val417Ile)	PFKFB3 (V417I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369637	NM_004566.4(PFKFB3):c.982G>A (p.Val328Ile)	PFKFB3 (V308I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368436	NM_004566.4(PFKFB3):c.1423C>T (p.Arg475Cys)	PFKFB3 (R475C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333368	NM_004566.4(PFKFB3):c.763G>A (p.Gly255Ser)	PFKFB3 (G255S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312474	NM_004566.4(PFKFB3):c.503T>C (p.Val168Ala)	PFKFB3 (V182A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283362	NM_004566.4(PFKFB3):c.1298A>G (p.Tyr433Cys)	PFKFB3 (Y250C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283146	NM_004566.4(PFKFB3):c.317C>A (p.Ala106Asp)	PFKFB3 (A106D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271708	NM_004566.4(PFKFB3):c.604G>A (p.Asp202Asn)	PFKFB3 (D202N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261593	NM_004566.4(PFKFB3):c.820C>T (p.Arg274Trp)	PFKFB3 (R254W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236592	NM_004566.4(PFKFB3):c.856G>A (p.Val286Met)	PFKFB3 (V103M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236426	NM_004566.4(PFKFB3):c.1294A>G (p.Ile432Val)	PFKFB3 (I249V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235606	NM_004566.4(PFKFB3):c.1401C>A (p.Ser467Arg)	PFKFB3 (S284R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1527576	GRCh37/hg19 10p15.1(chr10:5952259-6486611)	FBH1, IL15RA +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1340138	GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	AKR1C1, AKR1C2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 769766	NM_004566.4(PFKFB3):c.945C>T (p.Tyr315=)	PFKFB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 728770	NM_004566.4(PFKFB3):c.1248C>T (p.Thr416=)	PFKFB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563726	GRCh37/hg19 10p15.1(chr10:6212015-6469873)x3	PFKFB3, PRKCQ	Copy number gain	not provided	GUncertain significance
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60