"Ambry Genetics"[submitter] AND "PFKL"[gene] - ClinVar

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

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2531862	NM_002626.6(PFKL):c.31G>A (p.Ala11Thr)	LOC130066817, PFKL (A11T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2606087	NM_002626.6(PFKL):c.37G>T (p.Gly13Cys)	LOC130066817, PFKL (G13C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3305898	NM_002626.6(PFKL):c.167A>G (p.Glu56Gly)	PFKL (E56G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811230	NM_002626.6(PFKL):c.175G>A (p.Val59Met)	PFKL (V109M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211584	NM_002626.6(PFKL):c.226A>G (p.Ile76Val)	PFKL (I126V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243046	NM_002626.6(PFKL):c.285G>C (p.Arg95Ser)	PFKL (R145S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547878	NM_002626.6(PFKL):c.293G>A (p.Arg98His)	PFKL (R98H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532348	NM_002626.6(PFKL):c.298G>A (p.Ala100Thr)	PFKL (A150T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383633	NM_002626.6(PFKL):c.452G>A (p.Arg151Gln)	PFKL (R151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353891	NM_002626.6(PFKL):c.472A>G (p.Ile158Val)	PFKL (I158V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211586	NM_002626.6(PFKL):c.637G>A (p.Gly213Arg)	PFKL (G263R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286598	NM_002626.6(PFKL):c.757C>T (p.Arg253Cys)	PFKL (R253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211587	NM_002626.6(PFKL):c.758G>A (p.Arg253His)	PFKL (R303H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245348	NM_002626.6(PFKL):c.805C>T (p.Arg269Cys)	PFKL (R269C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290744	NM_002626.6(PFKL):c.809A>G (p.Asn270Ser)	PFKL (N270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208214	NM_002626.6(PFKL):c.811G>A (p.Gly271Arg)	PFKL (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602607	NM_002626.6(PFKL):c.829A>G (p.Ser277Gly)	PFKL (S327G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303576	NM_002626.6(PFKL):c.868G>A (p.Asp290Asn)	PFKL (D340N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244473	NM_002626.6(PFKL):c.925G>T (p.Asp309Tyr)	PFKL (D359Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211588	NM_002626.6(PFKL):c.960G>A (p.Ala320=)	PFKL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2363838	NM_002626.6(PFKL):c.992C>T (p.Thr331Met)	PFKL (T331M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461512	NM_002626.6(PFKL):c.995C>T (p.Pro332Leu)	PFKL (P382L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211579	NM_002626.6(PFKL):c.1003G>A (p.Val335Met)	PFKL (V335M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509232	NM_002626.6(PFKL):c.1241T>C (p.Met414Thr)	PFKL (M414T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467137	NM_002626.6(PFKL):c.1268G>A (p.Arg423Gln)	PFKL (R473Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490406	NM_002626.6(PFKL):c.1360G>A (p.Asp454Asn)	PFKL (D454N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211581	NM_002626.6(PFKL):c.1382G>A (p.Arg461His)	PFKL (R511H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 618269	NM_002626.6(PFKL):c.1537C>T (p.Arg513Cys)	PFKL (R513C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2620603	NM_002626.6(PFKL):c.1565G>A (p.Cys522Tyr)	PFKL (C522Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556641	NM_002626.6(PFKL):c.1597C>A (p.Pro533Thr)	PFKL (P583T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462107	NM_002626.6(PFKL):c.1642G>A (p.Ala548Thr)	PFKL (A548T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353373	NM_002626.6(PFKL):c.1660C>T (p.Arg554Cys)	PFKL (R554C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541016	NM_002626.6(PFKL):c.1705G>A (p.Val569Met)	PFKL (V619M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211583	NM_002626.6(PFKL):c.1724A>G (p.Tyr575Cys)	PFKL (Y625C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305896	NM_002626.6(PFKL):c.1780G>A (p.Val594Ile)	PFKL (V644I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305897	NM_002626.6(PFKL):c.1817T>C (p.Val606Ala)	PFKL (V606A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594588	NM_002626.6(PFKL):c.1954G>A (p.Asp652Asn)	PFKL (D702N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465787	NM_002626.6(PFKL):c.2014C>T (p.Arg672Trp)	PFKL (R672W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621826	NM_002626.6(PFKL):c.2049G>T (p.Met683Ile)	PFKL (M683I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275349	NM_002626.6(PFKL):c.2084G>A (p.Arg695His)	PFKL (R695H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284490	NM_002626.6(PFKL):c.2125G>A (p.Val709Met)	PFKL (V709M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305899	NM_002626.6(PFKL):c.2276C>A (p.Ala759Asp)	PFKL (A809D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251845	NM_002626.6(PFKL):c.2279C>T (p.Ala760Val)	PFKL (A810V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211585	NM_002626.6(PFKL):c.2312G>A (p.Arg771His)	PFKL (R771H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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: 44