ClinVar for Gene (Select 57107) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211097	NM_020381.4(PDSS2):c.319A>G (p.Asn107Asp)	PDSS2 (N107D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3020546	NM_020381.4(PDSS2):c.531A>C (p.Pro177=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012746	NM_020381.4(PDSS2):c.831G>A (p.Gln277=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003154	NM_020381.4(PDSS2):c.210C>G (p.Arg70=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992818	NM_020381.4(PDSS2):c.984T>C (p.Asp328=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989304	NM_020381.4(PDSS2):c.445G>T (p.Ala149Ser)	PDSS2 (A149S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978057	NM_020381.4(PDSS2):c.877-20C>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974681	NM_020381.4(PDSS2):c.630+16G>T	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970140	NM_020381.4(PDSS2):c.735G>A (p.Ser245=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967589	NM_020381.4(PDSS2):c.1009-18del	PDSS2	Deletion (intron variant)	not provided	GBenign
Select item 2965113	NM_020381.4(PDSS2):c.1041+18A>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964026	NM_020381.4(PDSS2):c.703-19G>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897314	NM_020381.4(PDSS2):c.1009-9_1009-5del	PDSS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2861733	NM_020381.4(PDSS2):c.432-4T>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834053	NM_020381.4(PDSS2):c.631-8C>T	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829597	NM_020381.4(PDSS2):c.1074G>A (p.Val358=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822017	NM_020381.4(PDSS2):c.432-19_432-15del	PDSS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2813028	NM_020381.4(PDSS2):c.57C>T (p.Ser19=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788887	NM_020381.4(PDSS2):c.306A>T (p.Val102=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788420	NM_020381.4(PDSS2):c.22T>C (p.Leu8=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780025	NM_020381.4(PDSS2):c.195C>T (p.Ser65=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762858	NM_020381.4(PDSS2):c.296+12C>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762804	NM_020381.4(PDSS2):c.1045C>A (p.Arg349=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747410	NM_020381.4(PDSS2):c.432-9A>C	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714430	NM_020381.4(PDSS2):c.630+14G>T	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711315	NM_020381.4(PDSS2):c.432-16T>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2682945	NM_020381.4(PDSS2):c.154G>A (p.Val52Ile)	PDSS2 (V52I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656814	NM_020381.4(PDSS2):c.849T>C (p.Tyr283=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579862	NM_020381.4(PDSS2):c.487C>T (p.Arg163Cys)	PDSS2 (R163C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507352	NM_020381.4(PDSS2):c.380G>A (p.Ser127Asn)	PDSS2 (S127N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505025	NM_020381.4(PDSS2):c.262G>T (p.Val88Leu)	PDSS2 (V88L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2497848	NM_020381.4(PDSS2):c.163G>C (p.Glu55Gln)	PDSS2 (E55Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492811	NM_020381.4(PDSS2):c.38A>G (p.Tyr13Cys)	PDSS2 (Y13C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462619	NM_020381.4(PDSS2):c.410T>C (p.Met137Thr)	PDSS2 (M137T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434640	NM_020381.4(PDSS2):c.1070G>T (p.Gly357Val)	PDSS2 (G357V)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3	GUncertain significance
Select item 2426548	NC_000006.11:g.(?_107475823)_(107476001_?)del	PDSS2	Deletion	not provided	GUncertain significance
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 2419676	NM_020381.4(PDSS2):c.125C>T (p.Ser42Phe)	PDSS2 (S42F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419022	NM_020381.4(PDSS2):c.199A>C (p.Met67Leu)	PDSS2 (M67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2417911	NM_020381.4(PDSS2):c.835A>G (p.Met279Val)	PDSS2 (M279V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415087	NM_020381.4(PDSS2):c.1154G>C (p.Arg385Thr)	PDSS2 (R385T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2294525	NM_020381.4(PDSS2):c.437G>A (p.Arg146Lys)	PDSS2 (R146K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271074	NM_020381.4(PDSS2):c.604G>A (p.Gly202Arg)	PDSS2 (G202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187116	NM_020381.4(PDSS2):c.277C>G (p.Pro93Ala)	PDSS2 (P93A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182215	NM_020381.4(PDSS2):c.1009-3T>C	PDSS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2178985	NM_020381.4(PDSS2):c.124TCC[1] (p.Ser43del)	PDSS2 (S43del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2178615	NM_020381.4(PDSS2):c.323G>A (p.Ser108Asn)	PDSS2 (S108N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2175894	NM_020381.4(PDSS2):c.813G>A (p.Lys271=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174415	NM_020381.4(PDSS2):c.1045C>T (p.Arg349Ter)	PDSS2 (R349*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 2172030	NM_020381.4(PDSS2):c.523G>C (p.Asp175His)	PDSS2 (D175H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170159	NM_020381.4(PDSS2):c.702+9T>C	PDSS2	Single nucleotide variant (intron variant)	PDSS2-related condition +1 more	GLikely benign
Select item 2125701	NM_020381.4(PDSS2):c.416G>C (p.Ser139Thr)	PDSS2 (S139T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121367	NM_020381.4(PDSS2):c.635T>C (p.Val212Ala)	PDSS2 (V212A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2113717	NM_020381.4(PDSS2):c.703-13G>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109865	NM_020381.4(PDSS2):c.896C>G (p.Pro299Arg)	PDSS2 (P299R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093965	NM_020381.4(PDSS2):c.889G>A (p.Val297Ile)	PDSS2 (V297I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092666	NM_020381.4(PDSS2):c.876+4C>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2071956	NM_020381.4(PDSS2):c.919G>A (p.Asp307Asn)	PDSS2 (D307N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2064258	NM_020381.4(PDSS2):c.582T>C (p.Phe194=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059985	NM_020381.4(PDSS2):c.1009-9_1009-7del	PDSS2	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 2059878	NM_020381.4(PDSS2):c.1044G>T (p.Leu348Phe)	PDSS2 (L348F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052859	NM_020381.4(PDSS2):c.126C>T (p.Ser42=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052737	NM_020381.4(PDSS2):c.1A>G (p.Met1Val)	PDSS2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049193	NM_020381.4(PDSS2):c.181G>A (p.Gly61Arg)	PDSS2 (G61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042309	NM_020381.4(PDSS2):c.533T>C (p.Leu178Pro)	PDSS2 (L178P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040436	NM_020381.4(PDSS2):c.740G>A (p.Trp247Ter)	PDSS2 (W247*)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 3 +1 more	GUncertain significance
Select item 2035857	NM_020381.4(PDSS2):c.948T>C (p.Ala316=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021372	NM_020381.4(PDSS2):c.69G>C (p.Leu23=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020644	NM_020381.4(PDSS2):c.631-12C>T	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019218	NM_020381.4(PDSS2):c.1109A>G (p.Asn370Ser)	PDSS2 (N370S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019000	NM_020381.4(PDSS2):c.295A>G (p.Arg99Gly)	PDSS2 (R99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013411	NM_020381.4(PDSS2):c.365C>A (p.Ala122Glu)	PDSS2 (A122E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995522	NM_020381.4(PDSS2):c.183G>A (p.Gly61=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989890	NM_020381.4(PDSS2):c.432-14C>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986010	NM_020381.4(PDSS2):c.300G>A (p.Gly100=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985939	NM_020381.4(PDSS2):c.538G>C (p.Asp180His)	PDSS2 (D180H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981106	NM_020381.4(PDSS2):c.276C>T (p.His92=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981060	NM_020381.4(PDSS2):c.941A>C (p.Asn314Thr)	PDSS2 (N314T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978901	NM_020381.4(PDSS2):c.643T>C (p.Leu215=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976486	NM_020381.4(PDSS2):c.296+14C>T	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972733	NM_020381.4(PDSS2):c.149A>G (p.Asn50Ser)	PDSS2 (N50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971180	NM_020381.4(PDSS2):c.399G>A (p.Gln133=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970740	NM_020381.4(PDSS2):c.858C>T (p.His286=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970690	NM_020381.4(PDSS2):c.148A>T (p.Asn50Tyr)	PDSS2 (N50Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969187	NM_020381.4(PDSS2):c.846G>A (p.Gln282=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968048	NM_020381.4(PDSS2):c.855G>A (p.Lys285=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966763	NM_020381.4(PDSS2):c.407A>G (p.Asp136Gly)	PDSS2 (D136G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966159	NM_020381.4(PDSS2):c.764A>G (p.His255Arg)	PDSS2 (H255R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964442	NM_020381.4(PDSS2):c.411G>T (p.Met137Ile)	PDSS2 (M137I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963515	NM_020381.4(PDSS2):c.470T>G (p.Ile157Ser)	PDSS2 (I157S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957585	NM_020381.4(PDSS2):c.1125C>G (p.Ala375=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956636	NM_020381.4(PDSS2):c.26A>G (p.His9Arg)	PDSS2 (H9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954682	NM_020381.4(PDSS2):c.1042-1G>A	PDSS2	Single nucleotide variant (splice acceptor variant)	Coenzyme Q10 deficiency, primary, 3 +1 more	GConflicting classifications of pathogenicity
Select item 1951768	NM_020381.4(PDSS2):c.516A>G (p.Gln172=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948829	NM_020381.4(PDSS2):c.872A>G (p.His291Arg)	PDSS2 (H291R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946521	NM_020381.4(PDSS2):c.1045C>G (p.Arg349Gly)	PDSS2 (R349G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944664	NM_020381.4(PDSS2):c.1123G>A (p.Ala375Thr)	PDSS2 (A375T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938969	NM_020381.4(PDSS2):c.640C>G (p.Leu214Val)	PDSS2 (L214V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937172	NM_020381.4(PDSS2):c.1116A>C (p.Ala372=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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