EPM2A-DT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 1217441	NM_005670.4(EPM2A):c.301+88_301+96del	EPM2A-DT, EPM2A +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2974386	NM_005670.4(EPM2A):c.301+20G>A	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 378892	NM_005670.4(EPM2A):c.301+20G>T	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1623963	NM_005670.4(EPM2A):c.301+16del	LOC129997381, EPM2A +1 more	Deletion (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1561620	NM_005670.4(EPM2A):c.301+16G>A	LOC129997381, EPM2A +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2812071	NM_005670.4(EPM2A):c.301+14A>G	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1638938	NM_005670.4(EPM2A):c.301+11C>G	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1051013	NM_005670.4(EPM2A):c.301+5T>G	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 385490	NM_005670.4(EPM2A):c.301+5T>C	EPM2A-DT, LOC129997381 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 387544	NM_005670.4(EPM2A):c.301+4T>C	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2020620	NM_005670.4(EPM2A):c.301+2T>C	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 1510680	NM_005670.4(EPM2A):c.301+1G>T	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant +1 more)	Progressive myoclonic epilepsy +1 more	GPathogenic
Select item 2809022	NM_005670.4(EPM2A):c.298_299delinsTT (p.Glu100Leu)	EPM2A, EPM2A-DT +1 more (E100L)	Indel (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2000259	NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)	EPM2A, EPM2A-DT +1 more (E100*)	Single nucleotide variant (nonsense +2 more)	Lafora disease +1 more	GConflicting classifications of pathogenicity
Select item 3002374	NM_005670.4(EPM2A):c.291C>T (p.Leu97=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1013308	NM_005670.4(EPM2A):c.290T>G (p.Leu97Arg)	EPM2A, EPM2A-DT +1 more (L97R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 947418	NM_005670.4(EPM2A):c.289C>G (p.Leu97Val)	EPM2A, EPM2A-DT +1 more (L97V)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1386609	NM_005670.4(EPM2A):c.281G>A (p.Gly94Glu)	EPM2A, EPM2A-DT +1 more (G94E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1106282	NM_005670.4(EPM2A):c.279G>A (p.Pro93=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 964502	NM_005670.4(EPM2A):c.278C>T (p.Pro93Leu)	EPM2A, EPM2A-DT +1 more (P93L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1616230	NM_005670.4(EPM2A):c.276G>A (p.Glu92=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 941639	NM_005670.4(EPM2A):c.275A>G (p.Glu92Gly)	EPM2A, EPM2A-DT +1 more (E92G)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 872146	NM_005670.4(EPM2A):c.269_275del (p.Lys90fs)	LOC129997381, EPM2A +1 more (K90fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 580227	NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln)	EPM2A, EPM2A-DT +1 more (R91Q)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 947752	NM_005670.4(EPM2A):c.271C>T (p.Arg91Trp)	EPM2A, EPM2A-DT +1 more (R91W)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2884376	NM_005670.4(EPM2A):c.270G>A (p.Lys90=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2163210	NM_005670.4(EPM2A):c.267G>A (p.Leu89=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 3065483	NM_005670.4(EPM2A):c.263T>A (p.Phe88Tyr)	EPM2A, EPM2A-DT +1 more (F88Y)	Single nucleotide variant (missense variant +2 more)	Myoclonic epilepsy of Lafora 1	GLikely pathogenic
Select item 943223	NM_005670.4(EPM2A):c.262T>C (p.Phe88Leu)	EPM2A, EPM2A-DT +1 more (F88L)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1139845	NM_005670.4(EPM2A):c.261G>A (p.Lys87=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 810005	NM_005670.4(EPM2A):c.259A>G (p.Lys87Glu)	EPM2A, EPM2A-DT +1 more (K87E)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1950539	NM_005670.4(EPM2A):c.258C>T (p.Tyr86=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1451802	NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter)	EPM2A, EPM2A-DT +1 more (Y86*)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 2136482	NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)	EPM2A, EPM2A-DT +1 more (Y86D)	Single nucleotide variant (missense variant +3 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 1068373	NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu)	LOC129997381, EPM2A +1 more (F84L)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GLikely pathogenic
Select item 756722	NM_005670.4(EPM2A):c.252C>T (p.Phe84=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1439299	NM_005670.4(EPM2A):c.249G>A (p.Thr83=)	LOC129997381, EPM2A +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2558129	NM_005670.4(EPM2A):c.248C>A (p.Thr83Lys)	EPM2A, EPM2A-DT +1 more (T83K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1389870	NM_005670.4(EPM2A):c.248C>T (p.Thr83Met)	EPM2A, EPM2A-DT +1 more (T83M)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1642803	NM_005670.4(EPM2A):c.246C>T (p.Asp82=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2705613	NM_005670.4(EPM2A):c.243G>C (p.Val81=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 205437	NM_005670.4(EPM2A):c.241G>A (p.Val81Met)	EPM2A, EPM2A-DT +1 more (V81M)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1127933	NM_005670.4(EPM2A):c.237C>T (p.Gly79=)	LOC129997381, EPM2A +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1034897	NM_005670.4(EPM2A):c.235G>T (p.Gly79Cys)	LOC129997381, EPM2A +1 more (G79C)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 193326	NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)	EPM2A, EPM2A-DT +1 more (G79R)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1537149	NM_005670.4(EPM2A):c.234G>A (p.Pro78=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (intron variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1058333	NM_005670.4(EPM2A):c.211_231dup (p.Ala71_Glu77dup)	EPM2A, EPM2A-DT +1 more	Duplication (inframe_insertion +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 943699	NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro)	EPM2A, EPM2A-DT +1 more (A76P)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1378218	NM_005670.4(EPM2A):c.223G>A (p.Gly75Arg)	EPM2A, EPM2A-DT +1 more (G75R)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1037355	NM_005670.4(EPM2A):c.222C>G (p.Asp74Glu)	EPM2A, EPM2A-DT +1 more (D74E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1481685	NM_005670.4(EPM2A):c.217C>G (p.Gln73Glu)	EPM2A, EPM2A-DT +1 more (Q73E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1942962	NM_005670.4(EPM2A):c.194_214dup (p.Ala71_Ala72insGluLeuAlaAlaGluGluAla)	EPM2A, EPM2A-DT +1 more	Duplication (inframe_insertion +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1019461	NM_005670.4(EPM2A):c.215C>T (p.Ala72Val)	EPM2A, EPM2A-DT +1 more (A72V)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1056482	NM_005670.4(EPM2A):c.214G>A (p.Ala72Thr)	EPM2A, EPM2A-DT +1 more (A72T)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1046134	NM_005670.4(EPM2A):c.212C>A (p.Ala71Glu)	EPM2A, EPM2A-DT +1 more (A71E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 998586	NM_005670.4(EPM2A):c.212C>T (p.Ala71Val)	EPM2A, EPM2A-DT +1 more (A71V)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 240199	NM_005670.4(EPM2A):c.210G>A (p.Glu70=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 205433	NM_005670.4(EPM2A):c.209A>T (p.Glu70Val)	EPM2A, EPM2A-DT +1 more (E70V)	Single nucleotide variant (missense variant +2 more)	Myoclonic epilepsy of Lafora 1 +1 more	GUncertain significance
Select item 265122	NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)	EPM2A, EPM2A-DT +1 more (E70Q)	Single nucleotide variant (missense variant +2 more)	Lafora disease +3 more	GUncertain significance
Select item 665213	NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)	EPM2A, EPM2A-DT +1 more (E69G)	Indel (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1139846	NM_005670.4(EPM2A):c.204C>A (p.Ala68=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2827898	NM_005670.4(EPM2A):c.201G>T (p.Ala67=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 743273	NM_005670.4(EPM2A):c.201G>A (p.Ala67=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 205432	NM_005670.4(EPM2A):c.193G>A (p.Glu65Lys)	EPM2A, EPM2A-DT +1 more (E65K)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 589823	NM_005670.4(EPM2A):c.190G>A (p.Val64Met)	EPM2A, EPM2A-DT +1 more (V64M)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 1507061	NM_005670.4(EPM2A):c.181C>G (p.Leu61Val)	EPM2A-DT, LOC129997381 +1 more (L61V)	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2431059	NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)	EPM2A, EPM2A-DT +1 more (W60*)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 3065607	NM_005670.4(EPM2A):c.177del (p.Trp60fs)	EPM2A, EPM2A-DT +1 more (W60fs)	Deletion (frameshift variant +2 more)	Myoclonic epilepsy of Lafora 1	GLikely pathogenic
Select item 2959709	NM_005670.4(EPM2A):c.177G>A (p.Leu59=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2163978	NM_005670.4(EPM2A):c.171G>C (p.Pro57=)	LOC129997381, EPM2A +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1110339	NM_005670.4(EPM2A):c.171G>A (p.Pro57=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 137217	NM_005670.4(EPM2A):c.171G>T (p.Pro57=)	EPM2A-DT, LOC129997381 +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +2 more	GBenign/Likely benign
Select item 462930	NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu)	EPM2A, EPM2A-DT +1 more (P57L)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1447364	NM_005670.4(EPM2A):c.169C>A (p.Pro57Thr)	EPM2A, EPM2A-DT +1 more (P57T)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2965144	NM_005670.4(EPM2A):c.168G>A (p.Glu56=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1507173	NM_005670.4(EPM2A):c.166G>C (p.Glu56Gln)	EPM2A, EPM2A-DT +1 more (E56Q)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 205431	NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter)	EPM2A, EPM2A-DT +1 more (E56*)	Single nucleotide variant (nonsense +2 more)	Myoclonic epilepsy of Lafora 1 +1 more	GPathogenic
Select item 856564	NM_005670.4(EPM2A):c.164A>C (p.Gln55Pro)	EPM2A-DT, EPM2A +1 more (Q55P)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 419335	NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)	EPM2A, EPM2A-DT +1 more (Q55*)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy +2 more	GPathogenic/Likely pathogenic
Select item 129003	NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)	EPM2A, EPM2A-DT +1 more (Q55K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GBenign
Select item 512941	NM_005670.4(EPM2A):c.162G>A (p.Leu54=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 2267175	NM_005670.4(EPM2A):c.161T>C (p.Leu54Pro)	EPM2A, EPM2A-DT +1 more (L54P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1133175	NM_005670.4(EPM2A):c.159_160delinsGT (p.Ala53_Leu54=)	EPM2A, EPM2A-DT +1 more	Indel (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2920265	NM_005670.4(EPM2A):c.159C>T (p.Ala53=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2096794	NM_005670.4(EPM2A):c.158_159inv (p.Ala53Gly)	EPM2A, EPM2A-DT +1 more (A53G)	Inversion (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1982734	NM_005670.4(EPM2A):c.159C>A (p.Ala53=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 205450	NM_005670.4(EPM2A):c.157_159delinsACG (p.Ala53Thr)	EPM2A, EPM2A-DT +1 more (A53T)	Indel (missense variant +2 more)	not specified	GUncertain significance
Select item 95306	NM_005670.4(EPM2A):c.159C>G (p.Ala53=)	LOC129997381, EPM2A +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 1036552	NM_005670.4(EPM2A):c.158C>T (p.Ala53Val)	EPM2A, EPM2A-DT +1 more (A53V)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 205430	NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr)	EPM2A, LOC129997381 +1 more (A53T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1095615	NM_005670.4(EPM2A):c.156G>A (p.Leu52=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2002221	NM_005670.4(EPM2A):c.155T>G (p.Leu52Arg)	EPM2A, EPM2A-DT +1 more (L52R)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 3234973	NM_005670.4(EPM2A):c.82_154del (p.Glu28fs)	EPM2A, EPM2A-DT +1 more (E28fs)	Deletion (frameshift variant +2 more)	Myoclonic epilepsy of Lafora 1	GLikely pathogenic
Select item 1648013	NM_005670.4(EPM2A):c.154C>T (p.Leu52=)	EPM2A, EPM2A-DT +1 more	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 845081	NM_005670.4(EPM2A):c.112_153dup (p.Val38_Ala51dup)	EPM2A, EPM2A-DT +1 more	Duplication (inframe_insertion +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 392977	NM_005670.4(EPM2A):c.152C>A (p.Ala51Asp)	EPM2A, EPM2A-DT +1 more (A51D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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