PCGF2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2966372	NM_007144.3(PCGF2):c.658-12C>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989609	NM_007144.3(PCGF2):c.658-14dup	PCGF2	Duplication (intron variant)	not provided	GBenign
Select item 1608582	NM_007144.3(PCGF2):c.657+20G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902007	NM_007144.3(PCGF2):c.657+16G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620771	NM_007144.3(PCGF2):c.657+11G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918623	NM_007144.3(PCGF2):c.657+10C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2720602	NM_007144.3(PCGF2):c.653G>A (p.Arg218Gln)	PCGF2 (R218Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949795	NM_007144.3(PCGF2):c.652C>T (p.Arg218Trp)	PCGF2 (R218W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439825	NM_007144.3(PCGF2):c.634G>A (p.Ala212Thr)	PCGF2 (A212T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984837	NM_007144.3(PCGF2):c.633C>T (p.Ile211=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896341	NM_007144.3(PCGF2):c.630C>T (p.Asp210=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2434608	NM_007144.3(PCGF2):c.629A>G (p.Asp210Gly)	PCGF2 (D210G)	Single nucleotide variant (missense variant)	Turnpenny-fry syndrome	GUncertain significance
Select item 1481995	NM_007144.3(PCGF2):c.598G>A (p.Glu200Lys)	PCGF2 (E200K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1917960	NM_007144.3(PCGF2):c.597C>T (p.Asp199=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679580	NM_007144.3(PCGF2):c.592G>A (p.Glu198Lys)	PCGF2 (E198K)	Single nucleotide variant (missense variant)	Turnpenny-fry syndrome +1 more	GUncertain significance
Select item 2062683	NM_007144.3(PCGF2):c.591C>T (p.Tyr197=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955624	NM_007144.3(PCGF2):c.588G>A (p.Leu196=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535773	NM_007144.3(PCGF2):c.582G>A (p.Glu194=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972647	NM_007144.3(PCGF2):c.579G>A (p.Val193=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1530507	NM_007144.3(PCGF2):c.577-6C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915013	NM_007144.3(PCGF2):c.577-15G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637969	NM_007144.3(PCGF2):c.577-16C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960127	NM_007144.3(PCGF2):c.576+15C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1573741	NM_007144.3(PCGF2):c.576+14C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2176277	NM_007144.3(PCGF2):c.576+7C>G	PCGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2013302	NM_007144.3(PCGF2):c.561G>A (p.Val187=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170194	NM_007144.3(PCGF2):c.545G>A (p.Arg182His)	PCGF2 (R182H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670412	NM_007144.3(PCGF2):c.544C>T (p.Arg182Cys)	PCGF2 (R182C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1589730	NM_007144.3(PCGF2):c.528T>C (p.His176=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924946	NM_007144.3(PCGF2):c.520G>A (p.Val174Ile)	PCGF2 (V174I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956173	NM_007144.3(PCGF2):c.519C>T (p.Thr173=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094690	NM_007144.3(PCGF2):c.509C>G (p.Ala170Gly)	PCGF2 (A170G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2858567	NM_007144.3(PCGF2):c.492C>T (p.Arg164=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067072	NM_007144.3(PCGF2):c.491G>A (p.Arg164His)	PCGF2 (R164H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966787	NM_007144.3(PCGF2):c.483_484del (p.Val163fs)	PCGF2 (V163fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1960069	NM_007144.3(PCGF2):c.483A>G (p.Thr161=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824212	NM_007144.3(PCGF2):c.481-3C>G	PCGF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2973915	NM_007144.3(PCGF2):c.481-8C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744095	NM_007144.3(PCGF2):c.481-18G>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003742	NM_007144.3(PCGF2):c.480+13G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533177	NM_007144.3(PCGF2):c.471C>T (p.Asp157=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495885	NM_007144.3(PCGF2):c.439AAG[1] (p.Lys148del)	PCGF2 (K148del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1326991	NM_007144.3(PCGF2):c.435C>T (p.Asp145=)	PCGF2	Single nucleotide variant (synonymous variant)	Turnpenny-fry syndrome +1 more	GBenign
Select item 2028574	NM_007144.3(PCGF2):c.431G>C (p.Arg144Pro)	PCGF2 (R144P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1654717	NM_007144.3(PCGF2):c.431G>A (p.Arg144Gln)	PCGF2 (R144Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2860661	NM_007144.3(PCGF2):c.430C>T (p.Arg144Trp)	PCGF2 (R144W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665702	NM_007144.3(PCGF2):c.429C>T (p.Asp143=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145617	NM_007144.3(PCGF2):c.426-9C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732420	NM_007144.3(PCGF2):c.415G>A (p.Glu139Lys)	PCGF2 (E139K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2066178	NM_007144.3(PCGF2):c.414C>T (p.Tyr138=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2976978	NM_007144.3(PCGF2):c.408A>C (p.Glu136Asp)	PCGF2 (E136D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906677	NM_007144.3(PCGF2):c.405C>T (p.Ile135=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004654	NM_007144.3(PCGF2):c.391G>C (p.Val131Leu)	PCGF2 (V131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525505	NM_007144.3(PCGF2):c.377G>A (p.Ser126Asn)	PCGF2 (S126N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2990337	NM_007144.3(PCGF2):c.372T>G (p.Ala124=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479166	NM_007144.3(PCGF2):c.367G>T (p.Gly123Trp)	PCGF2 (G123W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906612	NM_007144.3(PCGF2):c.361_363del (p.Glu121del)	PCGF2 (E121del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1651093	NM_007144.3(PCGF2):c.352T>C (p.Leu118=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2081502	NM_007144.3(PCGF2):c.346G>A (p.Glu116Lys)	PCGF2 (E116K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894646	NM_007144.3(PCGF2):c.344G>A (p.Gly115Asp)	PCGF2 (G115D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3305107	NM_007144.3(PCGF2):c.343G>A (p.Gly115Ser)	PCGF2 (G115S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647705	NM_007144.3(PCGF2):c.342C>T (p.Arg114=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026646	NM_007144.3(PCGF2):c.342C>A (p.Arg114=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3346223	NM_007144.3(PCGF2):c.340C>G (p.Arg114Gly)	PCGF2 (R114G)	Single nucleotide variant (missense variant)	PCGF2-related disorder	GUncertain significance
Select item 2176925	NM_007144.3(PCGF2):c.340C>T (p.Arg114Cys)	PCGF2 (R114C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1499760	NM_007144.3(PCGF2):c.333T>A (p.Asn111Lys)	PCGF2 (N111K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908173	NM_007144.3(PCGF2):c.332A>G (p.Asn111Ser)	PCGF2 (N111S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2601837	NM_007144.3(PCGF2):c.325G>A (p.Gly109Ser)	PCGF2 (G109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1602802	NM_007144.3(PCGF2):c.324C>T (p.Asn108=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1479635	NM_007144.3(PCGF2):c.323A>G (p.Asn108Ser)	PCGF2 (N108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342211	NM_007144.3(PCGF2):c.321C>T (p.Pro107=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553577	NM_007144.3(PCGF2):c.321C>G (p.Pro107=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935921	NM_007144.3(PCGF2):c.317-13T>C	PCGF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867979	NM_007144.3(PCGF2):c.316+18T>C	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987449	NM_007144.3(PCGF2):c.316+15G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981654	NM_007144.3(PCGF2):c.316+14C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929312	NM_007144.3(PCGF2):c.316+13G>A	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654595	NM_007144.3(PCGF2):c.316+12C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908932	NM_007144.3(PCGF2):c.316+9G>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880211	NM_007144.3(PCGF2):c.307_308del (p.Leu103fs)	PCGF2 (L103fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1945366	NM_007144.3(PCGF2):c.304C>T (p.Pro102Ser)	PCGF2 (P102S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913272	NM_007144.3(PCGF2):c.300G>A (p.Ala100=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998449	NM_007144.3(PCGF2):c.296C>G (p.Ala99Gly)	PCGF2 (A99G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2905325	NM_007144.3(PCGF2):c.283C>T (p.Arg95Trp)	PCGF2 (R95W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904823	NM_007144.3(PCGF2):c.281G>A (p.Arg94Gln)	PCGF2 (R94Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2887860	NM_007144.3(PCGF2):c.280C>T (p.Arg94Trp)	PCGF2 (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970682	NM_007144.3(PCGF2):c.275A>C (p.Lys92Thr)	PCGF2 (K92T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716063	NM_007144.3(PCGF2):c.267T>C (p.Asp89=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420764	NM_007144.3(PCGF2):c.267T>A (p.Asp89Glu)	PCGF2 (D89E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585623	NM_007144.3(PCGF2):c.266-12_266-9dup	PCGF2	Duplication (intron variant)	not provided	GLikely benign
Select item 3006178	NM_007144.3(PCGF2):c.265+10C>T	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2416785	NM_007144.3(PCGF2):c.265+9A>G	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1686033	NM_007144.3(PCGF2):c.265+8C>T	PCGF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3343242	NM_007144.3(PCGF2):c.265+2T>C	PCGF2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2777286	NM_007144.3(PCGF2):c.246G>A (p.Leu82=)	PCGF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110068	NM_007144.3(PCGF2):c.229G>A (p.Asp77Asn)	PCGF2 (D77N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200445	NM_007144.3(PCGF2):c.217A>G (p.Lys73Glu)	PCGF2 (K73E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1596792	NM_007144.3(PCGF2):c.210-8T>C	PCGF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1569456	NM_007144.3(PCGF2):c.210-10T>C	PCGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1634411	NM_007144.3(PCGF2):c.210-19C>G	PCGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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