ClinVar for MedGen (Select 6708) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 602

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374963	NM_001386393.1(PANK2):c.1358T>C (p.Leu453Pro)	PANK2 (L127P +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GLikely pathogenic
Select item 3248224	NC_000020.10:g.(?_3888553)_(3893301_?)dup	PANK2	Duplication	Pigmentary pallidal degeneration	GPathogenic
Select item 3248223	NC_000020.10:g.(?_3888553)_(3893301_?)del	PANK2	Deletion	Pigmentary pallidal degeneration	GPathogenic
Select item 3248222	NC_000020.10:g.(?_3869748)_(3888945_?)del	PANK2	Deletion	Pigmentary pallidal degeneration	GPathogenic
Select item 3248221	NC_000020.10:g.(?_3869748)_(3903941_?)del	MIR103A2, PANK2	Deletion	Pigmentary pallidal degeneration	GPathogenic
Select item 3242006	NM_001386393.1(PANK2):c.1267dup (p.Leu423fs)	PANK2 (L242fs +3 more)	Duplication (frameshift variant +1 more)	Pigmentary pallidal degeneration	GLikely pathogenic
Select item 3018996	NM_153638.4(PANK2):c.66G>C (p.Gly22=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 3016260	NM_001386393.1(PANK2):c.270C>T (p.Arg90=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 3016171	NM_001386393.1(PANK2):c.652-12A>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3016101	NM_001386393.1(PANK2):c.652-9_652-5del	PANK2	Deletion (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3015132	NM_001386393.1(PANK2):c.951C>G (p.Gly317=)	PANK2	Single nucleotide variant (synonymous variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 3013700	NM_153638.4(PANK2):c.105C>T (p.Pro35=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 3011300	NM_001386393.1(PANK2):c.1083-13del	PANK2	Deletion (intron variant)	Pigmentary pallidal degeneration	GBenign
Select item 3010860	NM_001386393.1(PANK2):c.906-8A>C	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3010056	NM_001386393.1(PANK2):c.299-12T>C	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3006859	NM_001386393.1(PANK2):c.93C>T (p.Ala31=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 3006538	NM_001386393.1(PANK2):c.906-19T>A	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3005832	NM_001386393.1(PANK2):c.15C>T (p.Leu5=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 3003990	NM_001386393.1(PANK2):c.652-19C>T	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3001746	NM_001386393.1(PANK2):c.1083-9_1083-8insTTCCCT	PANK2	Insertion (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3001667	NM_001386393.1(PANK2):c.1207-6G>A	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3001570	NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)	PANK2 (D16V +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GLikely pathogenic
Select item 3000947	NM_001386393.1(PANK2):c.299-12T>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3000929	NM_153638.4(PANK2):c.148T>C (p.Leu50=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 3000832	NM_001386393.1(PANK2):c.1082+11A>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2997374	NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)	PANK2 (Y383H +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2997173	NM_001386393.1(PANK2):c.1082+12TG[4]	PANK2	Microsatellite (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2997042	NM_153638.4(PANK2):c.258A>C (p.Gly86=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2994215	NM_001386393.1(PANK2):c.371_380del (p.Thr124fs)	PANK2 (T124fs +1 more)	Deletion (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 2989402	NM_001386393.1(PANK2):c.652-7A>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2987132	NM_001386393.1(PANK2):c.-13A>G	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2979621	NM_001386393.1(PANK2):c.652-14T>C	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2977018	NM_001386393.1(PANK2):c.252C>A (p.Thr84=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2972185	NM_001386393.1(PANK2):c.873C>G (p.Ser291=)	PANK2	Single nucleotide variant (synonymous variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2971753	NM_001386393.1(PANK2):c.738A>G (p.Gly246=)	PANK2	Single nucleotide variant (synonymous variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2965386	NM_153638.4(PANK2):c.126G>T (p.Pro42=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2964349	NM_001386393.1(PANK2):c.687A>G (p.Leu229=)	PANK2	Single nucleotide variant (synonymous variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2964281	NM_001386393.1(PANK2):c.1332+14T>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2962454	NM_001386393.1(PANK2):c.849G>A (p.Gly283=)	PANK2	Single nucleotide variant (synonymous variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2960200	NM_001386393.1(PANK2):c.477G>A (p.Glu159=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2957117	NM_001386393.1(PANK2):c.299-6A>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2920300	NM_001386393.1(PANK2):c.1206+11A>C	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2919467	NM_001386393.1(PANK2):c.906-13T>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2918882	NM_001386393.1(PANK2):c.1314A>G (p.Ala438=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2918027	NM_001386393.1(PANK2):c.1261_1262del (p.Met421fs)	PANK2 (M421fs +3 more)	Deletion (frameshift variant +1 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 2917993	NM_001386393.1(PANK2):c.171G>C (p.Ala57=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2917850	NM_153638.4(PANK2):c.24C>T (p.His8=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2915332	NM_001386393.1(PANK2):c.298+20C>T	LOC130065345, PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2914965	NM_001386393.1(PANK2):c.1254G>A (p.Thr418=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2912705	NM_001386393.1(PANK2):c.145C>A (p.Arg49=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2912685	NM_001386393.1(PANK2):c.-37C>G	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2911837	NM_001386393.1(PANK2):c.750C>T (p.Cys250=)	PANK2	Single nucleotide variant (synonymous variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2911486	NM_001386393.1(PANK2):c.987T>C (p.Ser329=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2911097	NM_001386393.1(PANK2):c.1026T>C (p.Asp342=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2910981	NM_153638.4(PANK2):c.141C>T (p.Ser47=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2910876	NM_153638.4(PANK2):c.45G>A (p.Ala15=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2910347	NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)	PANK2 (E131D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2910338	NM_001386393.1(PANK2):c.34C>T (p.Leu12=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2910063	NM_153638.4(PANK2):c.273G>A (p.Pro91=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2909558	NM_001386393.1(PANK2):c.57C>T (p.Leu19=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2908934	NM_001386393.1(PANK2):c.652-18A>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2905222	NM_001386393.1(PANK2):c.165C>T (p.Arg55=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2904702	NM_001386393.1(PANK2):c.6G>A (p.Gly2=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2903746	NM_153638.4(PANK2):c.153C>T (p.Asp51=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2903263	NM_001386393.1(PANK2):c.47G>T (p.Gly16Val)	LOC130065345, PANK2 (G126V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2902630	NM_001386393.1(PANK2):c.1207-20C>A	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2902353	NM_001386393.1(PANK2):c.1082+19del	PANK2	Deletion (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2901204	NM_001386393.1(PANK2):c.298+12G>T	LOC130065345, PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2901194	NM_001386393.1(PANK2):c.348A>G (p.Val116=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2900899	NM_001386393.1(PANK2):c.240C>T (p.Tyr80=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2898447	NM_001386393.1(PANK2):c.246C>T (p.Gly82=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2896987	NM_001386393.1(PANK2):c.1332+8G>C	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2894858	NM_001386393.1(PANK2):c.1082+9_1082+10dup	PANK2	Duplication (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2894344	NM_153638.4(PANK2):c.42G>A (p.Ala14=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2893456	NM_001386393.1(PANK2):c.1207-5C>T	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2892326	NM_001386393.1(PANK2):c.1080A>C (p.Ser360=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2891665	NM_153638.4(PANK2):c.84C>T (p.Phe28=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2889122	NM_001386393.1(PANK2):c.906-12T>A	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2886311	NM_153638.4(PANK2):c.18C>T (p.Pro6=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2885792	NM_153638.4(PANK2):c.114C>A (p.Thr38=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2885036	NM_001386393.1(PANK2):c.1083-12C>T	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2882100	NM_001386393.1(PANK2):c.102C>G (p.Val34=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2879639	NM_001386393.1(PANK2):c.604dup (p.Cys202fs)	PANK2 (C312fs +2 more)	Duplication (frameshift variant +1 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 2879180	NM_153638.4(PANK2):c.9G>A (p.Arg3=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2878644	NM_001386393.1(PANK2):c.-4G>C	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2874274	NM_001386393.1(PANK2):c.493C>T (p.Leu165=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2874218	NM_001386393.1(PANK2):c.27A>G (p.Arg9=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2873642	NM_001386393.1(PANK2):c.105G>T (p.Ser35=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2869524	NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)	PANK2 (L127H +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 2869523	NM_001386393.1(PANK2):c.1083-1G>A	PANK2	Single nucleotide variant (splice acceptor variant)	Pigmentary pallidal degeneration	GPathogenic
Select item 2869160	NM_001386393.1(PANK2):c.651+16C>G	PANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2867043	NM_001386393.1(PANK2):c.387G>A (p.Glu129=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2866828	NM_153638.4(PANK2):c.7A>C (p.Arg3=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2866821	NM_001386393.1(PANK2):c.192G>C (p.Ala64=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2865921	NM_001386393.1(PANK2):c.216G>A (p.Thr72=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2865678	NM_001386393.1(PANK2):c.45A>C (p.Gly15=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2863746	NM_001386393.1(PANK2):c.192G>A (p.Ala64=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2862462	NM_001386393.1(PANK2):c.1333-4T>A	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2857492	NM_001386393.1(PANK2):c.1170C>T (p.Asn390=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2857310	NM_001386393.1(PANK2):c.204G>T (p.Ser68=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign

<< First< Prev

Page of 7