PFKFB4[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2618432	NM_004567.4(PFKFB4):c.1388T>A (p.Val463Asp)	PFKFB4 (V456D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473054	NM_004567.4(PFKFB4):c.1336C>T (p.Arg446Trp)	PFKFB4 (R411W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211573	NM_004567.4(PFKFB4):c.1331C>T (p.Thr444Met)	PFKFB4 (T253M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305895	NM_004567.4(PFKFB4):c.1299G>C (p.Glu433Asp)	PFKFB4 (E398D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284832	NM_004567.4(PFKFB4):c.1210G>C (p.Asp404His)	PFKFB4 (D404H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285987	NM_004567.4(PFKFB4):c.1112A>C (p.Gln371Pro)	PFKFB4 (Q400P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589609	NM_004567.4(PFKFB4):c.943G>C (p.Gly315Arg)	PFKFB4 (G124R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306076	NM_004567.4(PFKFB4):c.934G>A (p.Glu312Lys)	PFKFB4 (E121K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387802	NM_004567.4(PFKFB4):c.895G>A (p.Val299Ile)	PFKFB4 (V288I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514559	NM_004567.4(PFKFB4):c.800G>A (p.Arg267Gln)	PFKFB4 (R267Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211578	NM_004567.4(PFKFB4):c.796G>A (p.Gly266Ser)	PFKFB4 (G266S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549365	NM_004567.4(PFKFB4):c.767G>A (p.Arg256Gln)	PFKFB4 (R285Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304870	NM_004567.4(PFKFB4):c.739G>A (p.Val247Met)	PFKFB4 (V276M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486301	NM_004567.4(PFKFB4):c.652A>C (p.Ile218Leu)	PFKFB4 (I218L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211818	NM_004567.4(PFKFB4):c.592T>C (p.Tyr198His)	PFKFB4 (Y187H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456218	NM_004567.4(PFKFB4):c.583A>G (p.Ile195Val)	PFKFB4 (I4V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211576	NM_004567.4(PFKFB4):c.544C>T (p.Arg182Cys)	PFKFB4 (R211C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211575	NM_004567.4(PFKFB4):c.515T>G (p.Val172Gly)	PFKFB4 (V161G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305892	NM_004567.4(PFKFB4):c.463G>A (p.Val155Ile)	PFKFB4 (V144I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305893	NM_004567.4(PFKFB4):c.445G>A (p.Gly149Ser)	PFKFB4 (G138S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305894	NM_004567.4(PFKFB4):c.413G>A (p.Arg138Lys)	PFKFB4 (R138K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477871	NM_004567.4(PFKFB4):c.346C>T (p.Arg116Trp)	PFKFB4 (R145W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211574	NM_004567.4(PFKFB4):c.241G>C (p.Asp81His)	PFKFB4 (D110H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284881	NM_004567.4(PFKFB4):c.221A>G (p.Asn74Ser)	PFKFB4 (N103S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604881	NM_004567.4(PFKFB4):c.220A>C (p.Asn74His)	PFKFB4 (N74H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232378	NM_004567.4(PFKFB4):c.211C>T (p.Arg71Trp)	PFKFB4 (R71W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614000	NM_004567.4(PFKFB4):c.209C>T (p.Thr70Ile)	PFKFB4 (T59I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205079	NM_004567.4(PFKFB4):c.77T>C (p.Leu26Pro)	PFKFB4 (C6R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288657	NM_033199.4(UCN2):c.311G>A (p.Arg104His)	PFKFB4, UCN2 (R104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458465	NM_033199.4(UCN2):c.306C>A (p.Asn102Lys)	PFKFB4, UCN2 (N102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330780	NM_033199.4(UCN2):c.241G>A (p.Gly81Ser)	PFKFB4, UCN2 (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271489	NM_033199.4(UCN2):c.214A>C (p.Ile72Leu)	PFKFB4, UCN2 (I72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459917	NM_033199.4(UCN2):c.212G>A (p.Arg71His)	PFKFB4, UCN2 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185967	NM_033199.4(UCN2):c.209C>T (p.Ser70Leu)	PFKFB4, UCN2 (S70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230421	NM_033199.4(UCN2):c.196C>T (p.Arg66Cys)	PFKFB4, UCN2 (R66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185966	NM_033199.4(UCN2):c.194C>T (p.Thr65Ile)	PFKFB4, UCN2 (T65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221382	GRCh38/hg38 3p21.31(chr3:48562955-48587488)x1	COL7A1, MIR711 +2 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2205549	NM_033199.4(UCN2):c.91C>T (p.Arg31Cys)	PFKFB4, UCN2 (R31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 48