ClinVar (all) for Orgtrack (Select 239772) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061741	NM_001080467.3(MYO5B):c.4612-10C>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	MYO5B-related condition	GLikely benign
Select item 3061740	NM_000204.5(CFI):c.1045-5T>C	CFI	Single nucleotide variant (intron variant)	CFI-related condition	GLikely benign
Select item 3061739	NM_001349338.3(FOXP1):c.1407A>G (p.Thr469=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	FOXP1-related condition	GLikely benign
Select item 3061738	NM_006420.3(ARFGEF2):c.3195G>A (p.Ser1065=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related condition	GLikely benign
Select item 3061737	NM_182700.6(SP8):c.96G>A (p.Pro32=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related condition	GLikely benign
Select item 3061736	NM_001626.6(AKT2):c.486C>T (p.Thr162=)	AKT2	Single nucleotide variant (synonymous variant)	AKT2-related condition	GLikely benign
Select item 3061735	NM_001001548.3(CD36):c.534G>C (p.Leu178=)	CD36	Single nucleotide variant (synonymous variant +2 more)	CD36-related condition	GLikely benign
Select item 3061734	NM_001128159.3(VPS53):c.*2A>G	VPS53	Single nucleotide variant (3 prime UTR variant)	VPS53-related condition	GLikely benign
Select item 3061733	NM_018082.6(POLR3B):c.2463A>G (p.Val821=)	POLR3B	Single nucleotide variant (synonymous variant)	POLR3B-related condition	GLikely benign
Select item 3061732	NM_000182.5(HADHA):c.743C>A (p.Ala248Asp)	HADHA (A248D)	Single nucleotide variant (missense variant)	HADHA-related condition	GUncertain significance
Select item 3061731	NM_022552.5(DNMT3A):c.640-3764C>A	DNMT3A (R27S)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related condition	GUncertain significance
Select item 3061730	NM_001151.4(SLC25A4):c.651C>A (p.Ala217=)	SLC25A4	Single nucleotide variant (synonymous variant)	SLC25A4-related condition	GLikely benign
Select item 3061729	NM_033427.3(CTTNBP2):c.1307C>T (p.Ser436Phe)	CTTNBP2 (S418F +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related condition	GUncertain significance
Select item 3061728	NM_000548.5(TSC2):c.2553C>G (p.Ala851=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	TSC2-related condition	GLikely benign
Select item 3061727	NM_001001548.3(CD36):c.1101T>C (p.His367=)	CD36	Single nucleotide variant (synonymous variant +1 more)	CD36-related condition	GLikely benign
Select item 3061726	NM_024408.4(NOTCH2):c.4967A>G (p.Gln1656Arg)	NOTCH2 (Q1656R)	Single nucleotide variant (missense variant)	NOTCH2-related condition	GUncertain significance
Select item 3061725	NM_033225.6(CSMD1):c.379G>T (p.Ala127Ser)	CSMD1 (A127S)	Single nucleotide variant (missense variant)	CSMD1-related condition	GUncertain significance
Select item 3061724	NM_002303.6(LEPR):c.2674-5846C>G	LEPR	Single nucleotide variant (synonymous variant +1 more)	LEPR-related condition	GLikely benign
Select item 3061723	NM_000868.4(HTR2C):c.1230G>A (p.Glu410=)	HTR2C, LOC126863306	Single nucleotide variant (synonymous variant +1 more)	HTR2C-related condition	GLikely benign
Select item 3061722	NM_014874.4(MFN2):c.474+6G>A	MFN2	Single nucleotide variant (intron variant)	MFN2-related condition	GLikely benign
Select item 3061721	NM_003872.3(NRP2):c.2402T>C (p.Met801Thr)	NRP2 (M801T)	Single nucleotide variant (missense variant)	NRP2-related condition	GUncertain significance
Select item 3061720	NM_003403.5(YY1):c.581GCG[5] (p.Gly197_Ala198insGly)	YY1	Microsatellite (inframe_indel +1 more)	YY1-related condition	GUncertain significance
Select item 3061719	NM_003482.4(KMT2D):c.8727A>G (p.Val2909=)	KMT2D	Single nucleotide variant (synonymous variant)	KMT2D-related condition	GLikely benign
Select item 3061718	NM_006080.3(SEMA3A):c.*1G>A	SEMA3A	Single nucleotide variant (3 prime UTR variant)	SEMA3A-related condition	GLikely benign
Select item 3061717	NM_080916.3(DGUOK):c.120G>A (p.Arg40=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	DGUOK-related condition	GLikely benign
Select item 3061716	NM_023936.2(MRPS34):c.291C>T (p.Leu97=)	EME2, LOC130058183 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related condition	GLikely benign
Select item 3061715	NM_002617.4(PEX10):c.437G>C (p.Arg146Pro)	PEX10 (R146P +1 more)	Single nucleotide variant (missense variant +1 more)	PEX10-related condition	GUncertain significance
Select item 3061714	NM_015409.5(EP400):c.494G>T (p.Ser165Ile)	EP400 (S165I)	Single nucleotide variant (missense variant)	EP400-related condition	GUncertain significance
Select item 3061713	NM_020338.4(ZMIZ1):c.2002G>A (p.Val668Ile)	ZMIZ1 (V668I)	Single nucleotide variant (missense variant)	ZMIZ1-related condition	GUncertain significance
Select item 3061712	NM_138295.5(PKD1L1):c.6686C>G (p.Pro2229Arg)	PKD1L1 (P2229R)	Single nucleotide variant (missense variant)	PKD1L1-related condition	GUncertain significance
Select item 3061711	NM_000088.4(COL1A1):c.1544del (p.Gly515fs)	COL1A1 (G515fs)	Deletion (frameshift variant)	COL1A1-related condition	GLikely pathogenic
Select item 3061710	NM_001080467.3(MYO5B):c.4791T>C (p.Leu1597=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	MYO5B-related condition	GLikely benign
Select item 3061709	NM_001148.6(ANK2):c.11559T>C (p.Asp3853=)	ANK2	Single nucleotide variant (synonymous variant)	ANK2-related condition	GLikely benign
Select item 3061708	NM_003954.5(MAP3K14):c.1647C>T (p.Ser549=)	MAP3K14	Single nucleotide variant (synonymous variant)	MAP3K14-related condition	GLikely benign
Select item 3061707	NM_015021.3(ZNF292):c.3441A>G (p.Thr1147=)	ZNF292	Single nucleotide variant (synonymous variant)	ZNF292-related condition	GLikely benign
Select item 3061706	NM_002456.6(MUC1):c.800C>G (p.Ala267Gly)	MUC1 (A1224G +17 more)	Single nucleotide variant (missense variant +1 more)	MUC1-related condition	GUncertain significance
Select item 3061705	NM_004714.3(DYRK1B):c.111C>A (p.Phe37Leu)	DYRK1B (F37L)	Single nucleotide variant (missense variant)	DYRK1B-related condition	GUncertain significance
Select item 3061704	NM_004826.4(ECEL1):c.1884A>G (p.Ser628=)	ECEL1	Single nucleotide variant (synonymous variant)	ECEL1-related condition	GLikely benign
Select item 3061703	NM_000264.5(PTCH1):c.668T>C (p.Leu223Pro)	PTCH1 (L157P +3 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related condition	GUncertain significance
Select item 3061702	NM_001999.4(FBN2):c.2479C>A (p.Arg827=)	FBN2	Single nucleotide variant (synonymous variant)	FBN2-related condition	GLikely benign
Select item 3061701	NM_002693.3(POLG):c.69G>A (p.Gly23=)	POLG, POLGARF (A42T)	Single nucleotide variant (missense variant +1 more)	POLG-related disorder	GLikely benign
Select item 3061700	NM_181712.5(KANK4):c.2745G>A (p.Leu915=)	KANK4	Single nucleotide variant (synonymous variant)	KANK4-related condition	GLikely benign
Select item 3061699	NM_020911.2(PLXNA4):c.4737G>A (p.Lys1579=)	PLXNA4	Single nucleotide variant (synonymous variant)	PLXNA4-related condition	GLikely benign
Select item 3061698	NM_001277115.2(DNAH11):c.9102+2960C>T	DNAH11	Single nucleotide variant (intron variant)	DNAH11-related condition	GUncertain significance
Select item 3061697	NM_032595.5(PPP1R9B):c.222G>C (p.Ala74=)	PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related condition	GLikely benign
Select item 3061696	NM_004722.4(AP4M1):c.1041G>C (p.Leu347=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related condition	GLikely benign
Select item 3061695	NM_181458.4(PAX3):c.586+407C>T	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	PAX3-related condition	GLikely benign
Select item 3061694	NM_001348768.2(HECW2):c.4186C>A (p.Pro1396Thr)	HECW2 (P1040T +1 more)	Single nucleotide variant (missense variant)	HECW2-related condition	GUncertain significance
Select item 3061693	NM_182925.5(FLT4):c.1689G>A (p.Lys563=)	FLT4	Single nucleotide variant (synonymous variant)	FLT4-related condition	GLikely benign
Select item 3061692	NM_015311.3(OBSL1):c.1603C>G (p.Leu535Val)	OBSL1 (L535V)	Single nucleotide variant (missense variant)	OBSL1-related condition	GUncertain significance
Select item 3061691	NM_000090.4(COL3A1):c.4352G>A (p.Gly1451Asp)	COL3A1 (G1451D)	Single nucleotide variant (missense variant)	COL3A1-related condition	GUncertain significance
Select item 3061690	NM_080680.3(COL11A2):c.201G>A (p.Gln67=)	COL11A2	Single nucleotide variant (synonymous variant +2 more)	COL11A2-related condition	GLikely benign
Select item 3061689	NM_004817.4(TJP2):c.825C>T (p.His275=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition	GLikely benign
Select item 3061688	NM_013275.6(ANKRD11):c.7522C>A (p.Gln2508Lys)	ANKRD11 (Q2508K)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 3061687	NM_181672.3(OGT):c.522A>C (p.Glu174Asp)	OGT (E164D +1 more)	Single nucleotide variant (missense variant)	OGT-related condition	GUncertain significance
Select item 3061686	NM_001103146.3(GIGYF2):c.1640-3T>C	GIGYF2	Single nucleotide variant (intron variant)	GIGYF2-related condition	GLikely benign
Select item 3061685	NM_001378328.1(CELSR1):c.3384G>A (p.Pro1128=)	CELSR1	Single nucleotide variant (synonymous variant)	CELSR1-related condition	GLikely benign
Select item 3061684	NM_001171613.2(PREPL):c.-49+1660A>G	PREPL	Single nucleotide variant (5 prime UTR variant +1 more)	PREPL-related condition	GLikely benign
Select item 3061683	NM_001366722.1(GRIP1):c.861T>C (p.Ser287=)	GRIP1	Single nucleotide variant (synonymous variant)	GRIP1-related condition	GLikely benign
Select item 3061682	NM_005068.3(SIM1):c.1970G>A (p.Arg657Gln)	SIM1 (R657Q)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
Select item 3061681	NM_030632.3(ASXL3):c.6250C>A (p.Leu2084Ile)	ASXL3 (L2084I)	Single nucleotide variant (missense variant)	ASXL3-related condition	GUncertain significance
Select item 3061680	NM_000069.3(CACNA1S):c.5380C>A (p.Arg1794=)	CACNA1S	Single nucleotide variant (synonymous variant)	CACNA1S-related condition	GLikely benign
Select item 3061679	NM_004473.4(FOXE1):c.505GCC[13] (p.Ala179_Ile180insAlaAla)	FOXE1	Microsatellite (inframe insertion)	FOXE1-related condition	GLikely benign
Select item 3061678	NM_018249.6(CDK5RAP2):c.3546C>T (p.His1182=)	CDK5RAP2	Single nucleotide variant (non-coding transcript variant +1 more)	CDK5RAP2-related condition	GLikely benign
Select item 3061677	NM_020223.4(FAM20C):c.1445G>A (p.Gly482Glu)	FAM20C (G482E)	Single nucleotide variant (missense variant)	FAM20C-related condition	GLikely pathogenic
Select item 3061676	NM_014994.3(MAPKBP1):c.2493C>G (p.Ser831=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	MAPKBP1-related condition	GLikely benign
Select item 3061675	NM_006379.5(SEMA3C):c.539-8T>C	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related condition	GLikely benign
Select item 3061674	NM_002661.5(PLCG2):c.3597C>T (p.Ser1199=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related condition	GLikely benign
Select item 3061673	NM_020163.3(SEMA3G):c.2148C>T (p.Phe716=)	SEMA3G	Single nucleotide variant (synonymous variant)	SEMA3G-related condition	GLikely benign
Select item 3061672	NM_006005.3(WFS1):c.1217C>A (p.Ala406Asp)	WFS1 (A406D)	Single nucleotide variant (missense variant)	WFS1-related condition	GLikely pathogenic
Select item 3061671	NM_000789.4(ACE):c.1922-198G>A	ACE	Single nucleotide variant (synonymous variant +2 more)	ACE-related condition	GLikely benign
Select item 3061670	NM_138295.5(PKD1L1):c.3785-3C>T	PKD1L1	Single nucleotide variant (intron variant)	PKD1L1-related condition	GLikely benign
Select item 3061669	NM_022455.5(NSD1):c.1133T>C (p.Val378Ala)	NSD1 (V127A +3 more)	Single nucleotide variant (missense variant)	NSD1-related condition	GUncertain significance
Select item 3061668	NM_018668.5(VPS33B):c.894T>C (p.Phe298=)	VPS33B	Single nucleotide variant (synonymous variant)	VPS33B-related condition	GLikely benign
Select item 3061667	NM_020911.2(PLXNA4):c.5670G>A (p.Met1890Ile)	PLXNA4 (M1890I)	Single nucleotide variant (missense variant)	PLXNA4-related condition	GUncertain significance
Select item 3061666	NM_032490.5(GON7):c.209-7T>A	GON7	Single nucleotide variant (intron variant)	GON7-related condition	GLikely benign
Select item 3061665	NM_002299.4(LCT):c.5321A>G (p.Asn1774Ser)	LCT (N1774S)	Single nucleotide variant (missense variant)	LCT-related condition	GUncertain significance
Select item 3061664	NM_006015.6(ARID1A):c.548C>T (p.Ala183Val)	ARID1A (A183V)	Single nucleotide variant (missense variant)	ARID1A-related condition	GUncertain significance
Select item 3061663	NM_001853.4(COL9A3):c.424-10C>T	COL9A3	Single nucleotide variant (intron variant)	COL9A3-related condition	GLikely benign
Select item 3061662	NM_000179.3(MSH6):c.457+27G>T	MSH6	Single nucleotide variant (intron variant)	MSH6-related condition	GLikely benign
Select item 3061661	NM_004259.7(RECQL5):c.130+5C>A	LOC126862642, RECQL5	Single nucleotide variant (intron variant)	RECQL5-related condition	GLikely benign
Select item 3061660	NM_019844.4(SLCO1B3):c.1863T>C (p.Phe621=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related condition	GLikely benign
Select item 3061659	NM_003597.5(KLF11):c.684G>A (p.Leu228=)	KLF11	Single nucleotide variant (synonymous variant)	KLF11-related condition	GLikely benign
Select item 3061658	NM_001098816.3(TENM4):c.2179+9A>G	TENM4	Single nucleotide variant (intron variant)	TENM4-related condition	GLikely benign
Select item 3061657	NM_016222.4(DDX41):c.714C>T (p.Pro238=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related condition	GLikely benign
Select item 3061656	NM_000540.3(RYR1):c.13158C>T (p.Pro4386=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related condition	GLikely benign
Select item 3061655	NM_000092.5(COL4A4):c.4363C>A (p.Pro1455Thr)	COL4A4 (P1455T)	Single nucleotide variant (missense variant)	COL4A4-related condition	GUncertain significance
Select item 3061654	NM_006996.3(SLC19A2):c.285C>T (p.Leu95=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	SLC19A2-related condition	GLikely benign
Select item 3061653	NM_003320.5(TUB):c.-1G>A	TUB	Single nucleotide variant (5 prime UTR variant)	TUB-related condition	GLikely benign
Select item 3061652	NM_022436.3(ABCG5):c.888C>T (p.Asn296=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	ABCG5-related condition	GLikely benign
Select item 3061651	NM_170699.3(GPBAR1):c.393C>G (p.Thr131=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related condition	GLikely benign
Select item 3061650	NM_001999.4(FBN2):c.8365-9T>A	FBN2	Single nucleotide variant (intron variant)	FBN2-related condition	GLikely benign
Select item 3061649	NM_021101.5(CLDN1):c.408C>T (p.Ala136=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related condition	GLikely benign
Select item 3061648	NM_001164508.2(NEB):c.6797T>C (p.Leu2266Pro)	NEB (L2266P)	Single nucleotide variant (missense variant)	NEB-related condition	GUncertain significance
Select item 3061647	NM_014967.5(FAN1):c.585C>G (p.Asn195Lys)	FAN1 (N195K)	Single nucleotide variant (missense variant)	FAN1-related condition	GUncertain significance
Select item 3061646	NM_006306.4(SMC1A):c.2526G>A (p.Val842=)	SMC1A	Single nucleotide variant (synonymous variant)	SMC1A-related condition	GLikely benign
Select item 3061645	NM_020959.3(ANO8):c.1059G>T (p.Leu353=)	ANO8	Single nucleotide variant (synonymous variant)	ANO8-related condition	GLikely benign
Select item 3061644	NM_001042413.2(GLIS3):c.1254G>A (p.Pro418=)	GLIS3	Single nucleotide variant (synonymous variant)	GLIS3-related condition	GLikely benign
Select item 3061643	NM_004595.5(SMS):c.661-1C>T	SMS	Single nucleotide variant (splice acceptor variant)	SMS-related condition	GLikely pathogenic
Select item 3061642	NM_020911.2(PLXNA4):c.2812C>T (p.Arg938Trp)	PLXNA4 (R938W)	Single nucleotide variant (missense variant)	PLXNA4-related condition	GUncertain significance

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