ClinVar for Gene (Select 5214) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355047	NM_002627.5(PFKP):c.2126A>T (p.Lys709Ile)	PFKP (K442I +8 more)	Single nucleotide variant (missense variant)	PFKP-related disorder	GLikely benign
Select item 3305911	NM_002627.5(PFKP):c.890G>T (p.Gly297Val)	PFKP (G270V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305910	NM_002627.5(PFKP):c.377G>T (p.Gly126Val)	PFKP (G126V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305909	NM_002627.5(PFKP):c.1246A>G (p.Ile416Val)	PFKP (I378V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305908	NM_002627.5(PFKP):c.1030G>A (p.Val344Ile)	PFKP (V175I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305907	NM_002627.5(PFKP):c.1390A>G (p.Thr464Ala)	PFKP (T295A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305906	NM_002627.5(PFKP):c.592G>A (p.Val198Ile)	PFKP, LOC126860826 (V171I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305905	NM_002627.5(PFKP):c.208G>A (p.Gly70Arg)	PFKP (R35Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305904	NM_002627.5(PFKP):c.487G>A (p.Ala163Thr)	LOC126860826, PFKP (A125T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305903	NM_002627.5(PFKP):c.2253G>T (p.Trp751Cys)	PFKP (W535C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211601	NM_002627.5(PFKP):c.344T>A (p.Leu115Gln)	PFKP (L115Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211600	NM_002627.5(PFKP):c.311G>A (p.Arg104Gln)	PFKP (R96Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211599	NM_002627.5(PFKP):c.308C>T (p.Thr103Met)	PFKP (T95M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211598	NM_002627.5(PFKP):c.262G>A (p.Val88Met)	PFKP (S53N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211597	NM_002627.5(PFKP):c.2113C>T (p.Arg705Trp)	PFKP (R705W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211596	NM_002627.5(PFKP):c.2089A>G (p.Ile697Val)	PFKP (I430V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211595	NM_002627.5(PFKP):c.207C>T (p.Asp69=)	PFKP (R35W)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3211594	NM_002627.5(PFKP):c.1694G>A (p.Arg565His)	PFKP (R565H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211593	NM_002627.5(PFKP):c.1685C>A (p.Thr562Asn)	PFKP (T295N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211592	NM_002627.5(PFKP):c.1283C>G (p.Ala428Gly)	PFKP (A212G +5 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 3040431	NM_002627.5(PFKP):c.2122+9T>A	PFKP	Single nucleotide variant (intron variant)	PFKP-related disorder	GLikely benign
Select item 3036624	NM_002627.5(PFKP):c.771G>A (p.Ser257=)	PFKP	Single nucleotide variant (synonymous variant)	PFKP-related disorder	GLikely benign
Select item 3029953	NM_002627.5(PFKP):c.1849-11CT[2]	PFKP	Microsatellite (intron variant)	PFKP-related disorder	GLikely benign
Select item 2610015	NM_002627.5(PFKP):c.1868C>T (p.Thr623Met)	PFKP (T356M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598697	NM_002627.5(PFKP):c.1318G>A (p.Gly440Ser)	PFKP (G271S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593964	NM_002627.5(PFKP):c.2082G>A (p.Met694Ile)	PFKP (M525I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589899	NM_002627.5(PFKP):c.2198C>T (p.Ala733Val)	PFKP (A733V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564975	NM_002627.5(PFKP):c.352G>A (p.Gly118Ser)	PFKP (G80S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553707	NM_002627.5(PFKP):c.211G>A (p.Gly71Ser)	PFKP (R36K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547563	NM_002627.5(PFKP):c.413G>A (p.Arg138Gln)	PFKP (R111Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543477	NM_002627.5(PFKP):c.929G>A (p.Arg310Lys)	PFKP (R141K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538993	NM_002627.5(PFKP):c.2140G>A (p.Asp714Asn)	PFKP (D447N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533481	NM_002627.5(PFKP):c.1639G>A (p.Asp547Asn)	PFKP (D378N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531595	NM_002627.5(PFKP):c.2174G>A (p.Arg725Lys)	PFKP (R556K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494215	NM_002627.5(PFKP):c.2132T>G (p.Phe711Cys)	PFKP (F762C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480310	NM_002627.5(PFKP):c.1280C>T (p.Ala427Val)	PFKP (A389V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461430	NM_002627.5(PFKP):c.1285G>A (p.Val429Ile)	PFKP (V213I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399441	NM_002627.5(PFKP):c.485A>G (p.Tyr162Cys)	LOC126860826, PFKP (Y124C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399008	NM_002627.5(PFKP):c.459G>C (p.Gln153His)	LOC126860826, PFKP (Q126H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391977	NM_002627.5(PFKP):c.2308G>A (p.Val770Met)	PFKP (V732M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389606	NM_002627.5(PFKP):c.22G>C (p.Ala8Pro)	LOC130003172, PFKP (A8P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387728	NM_002627.5(PFKP):c.1231T>A (p.Cys411Ser)	PFKP (C411S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375291	NM_002627.5(PFKP):c.770C>T (p.Ser257Leu)	PFKP (S88L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368715	NM_002627.5(PFKP):c.1681G>A (p.Asp561Asn)	PFKP (D523N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363232	NM_002627.5(PFKP):c.1067C>T (p.Pro356Leu)	PFKP (P140L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362540	NM_002627.5(PFKP):c.1229A>G (p.Asn410Ser)	PFKP (N194S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356022	NM_002627.5(PFKP):c.242G>A (p.Ser81Asn)	PFKP (S54N +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2353450	NM_002627.5(PFKP):c.754A>C (p.Met252Leu)	PFKP (M252L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353276	NM_002627.5(PFKP):c.784C>T (p.Arg262Trp)	PFKP (R224W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319776	NM_002627.5(PFKP):c.824C>A (p.Ala275Glu)	PFKP (A59E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317916	NM_002627.5(PFKP):c.388A>G (p.Ser130Gly)	PFKP (S130G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315635	NM_002627.5(PFKP):c.319C>T (p.Arg107Cys)	PFKP (R107C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310407	NM_002627.5(PFKP):c.1411G>A (p.Gly471Ser)	PFKP (G444S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304674	NM_002627.5(PFKP):c.1012C>G (p.Pro338Ala)	PFKP (P169A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301132	NM_002627.5(PFKP):c.1505C>T (p.Ala502Val)	PFKP (A475V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269560	NM_002627.5(PFKP):c.1363A>C (p.Lys455Gln)	PFKP (K286Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265563	NM_002627.5(PFKP):c.1333G>A (p.Ala445Thr)	PFKP (A445T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265190	NM_002627.5(PFKP):c.2350G>A (p.Val784Ile)	PFKP (V776I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264809	NM_002627.5(PFKP):c.82G>A (p.Gly28Ser)	LOC130003172, PFKP (G28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264232	NM_002627.5(PFKP):c.488C>A (p.Ala163Asp)	LOC126860826, PFKP (A136D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263827	NM_002627.5(PFKP):c.337A>C (p.Asn113His)	PFKP (N113H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262032	NM_002627.5(PFKP):c.572T>C (p.Leu191Pro)	LOC126860826, PFKP (L191P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241160	NM_002627.5(PFKP):c.2141A>G (p.Asp714Gly)	PFKP (D765G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231240	NM_002627.5(PFKP):c.1447C>T (p.Leu483Phe)	PFKP (L267F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226653	NM_002627.5(PFKP):c.2209A>C (p.Lys737Gln)	PFKP (K470Q +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225347	NM_002627.5(PFKP):c.1360G>A (p.Ala454Thr)	PFKP (A238T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219556	NM_002627.5(PFKP):c.1061G>A (p.Arg354His)	PFKP (R316H +5 more)	Single nucleotide variant (missense variant)	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 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1339885	GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1	ADARB2, AKR1C1 +12 more	Copy number loss	10p15.3 microdeletion syndrome	Gnot provided
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1330170	GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1	ADARB2, AKR1C1 +15 more	Copy number loss	Neurooculocardiogenitourinary syndrome	GPathogenic
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 980369	GRCh37/hg19 10p15.2(chr10:3172144-3778825)x1	PFKP, PITRM1	Copy number loss	not provided	GLikely benign
Select item 815312	GRCh37/hg19 10p15.2(chr10:3141969-3531426)x3	PFKP, PITRM1	Copy number gain	not provided	GUncertain significance
Select item 815309	GRCh37/hg19 10p15.3-15.1(chr10:100026-4433206)x3	IDI2, PFKP +9 more	Copy number gain	not provided	GPathogenic
Select item 790077	NM_002627.5(PFKP):c.1707C>T (p.Ser569=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790076	NM_002627.5(PFKP):c.1044C>T (p.Asn348=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790075	NM_002627.5(PFKP):c.939C>T (p.Thr313=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789608	NM_002627.5(PFKP):c.1650C>T (p.Ile550=)	PFKP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 788302	NM_002627.5(PFKP):c.1935C>T (p.Tyr645=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787897	NM_002627.5(PFKP):c.522C>T (p.Ile174=)	LOC126860826, PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785304	NM_002627.5(PFKP):c.666-4A>G	PFKP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784080	NM_002627.5(PFKP):c.2097A>G (p.Ala699=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774679	NM_002627.5(PFKP):c.1577A>G (p.Glu526Gly)	PFKP (E499G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 772942	NM_002627.5(PFKP):c.462C>T (p.Ile154=)	LOC126860826, PFKP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 771738	NM_002627.5(PFKP):c.2307C>T (p.Asp769=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768343	NM_002627.5(PFKP):c.2139C>T (p.Thr713=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 761913	NM_002627.5(PFKP):c.408C>T (p.Leu136=)	PFKP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 760919	NM_002627.5(PFKP):c.620+7C>T	LOC126860826, PFKP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 749049	NM_002627.5(PFKP):c.714C>T (p.Phe238=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735159	NM_002627.5(PFKP):c.537C>T (p.Cys179=)	LOC126860826, PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727589	NM_002627.5(PFKP):c.702G>A (p.Ala234=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718497	NM_002627.5(PFKP):c.2313G>A (p.Ser771=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712039	NM_002627.5(PFKP):c.2217G>T (p.Thr739=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712038	NM_002627.5(PFKP):c.1791G>A (p.Ala597=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 707853	NM_002627.5(PFKP):c.1830C>T (p.Phe610=)	PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688608	GRCh37/hg19 10p15.2(chr10:3156706-3784894)x1	PFKP, PITRM1	Copy number loss	not provided	GUncertain significance
Select item 688579	GRCh37/hg19 10p15.2(chr10:3173336-3232117)x1	PFKP, PITRM1	Copy number loss	not provided	GUncertain significance

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