ClinVar for MedGen (Select 78759) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975932	NM_002336.3(LRP6):c.4361dup (p.Ser1455fs)	LRP6 (S1455fs)	Duplication (frameshift variant)	Microcephaly +4 more	GUncertain significance
Select item 812993	NM_152564.5(VPS13B):c.11699_11702dup (p.Val3903fs)	VPS13B (V3903fs +1 more)	Duplication (frameshift variant)	Joint laxity +7 more	GLikely pathogenic
Select item 812992	NM_152564.5(VPS13B):c.4745+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GPathogenic
Select item 691885	NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)	EFEMP1 (Y205*)	Single nucleotide variant (nonsense)	Posterolateral diaphragmatic hernia +13 more	GPathogenic
Select item 691884	NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)	EFEMP1 (M107fs)	Deletion (frameshift variant)	Posterolateral diaphragmatic hernia +13 more	GPathogenic
Select item 623466	NM_017865.4(ZNF692):c.97G>C (p.Gly33Arg)	ZNF692 (G33R +1 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 623465	NM_024989.4(PGAP1):c.1553-4A>G	PGAP1	Single nucleotide variant (intron variant)	High myopia	GUncertain significance
Select item 623464	NM_021960.5(MCL1):c.1031G>T (p.Gly344Val)	MCL1 (G191V +2 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623463	NM_021948.5(BCAN):c.2518C>T (p.Leu840Phe)	BCAN, BCAN-AS1 +1 more (L840F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623462	NM_001129.5(AEBP1):c.592G>A (p.Gly198Arg)	AEBP1 (G198R)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623461	NM_015937.6(PIGT):c.1717C>T (p.Arg573Ter)	PIGT (R471* +3 more)	Single nucleotide variant (nonsense +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GUncertain significance
Select item 623460	NM_174936.4(PCSK9):c.468G>A (p.Trp156Ter)	PCSK9 (W156*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 623459	NM_174936.4(PCSK9):c.467G>A (p.Trp156Ter)	PCSK9 (W156*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 623458	NM_001037132.4(NRCAM):c.2411C>G (p.Ser804Cys)	NRCAM (S804C +10 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 623457	NM_003998.4(NFKB1):c.532T>A (p.Tyr178Asn)	NFKB1 (Y177N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623456	NM_005606.7(LGMN):c.1211A>G (p.His404Arg)	LGMN (H404R +1 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 623455	NM_005560.6(LAMA5):c.6221C>T (p.Pro2074Leu)	LAMA5 (P2074L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623454	NM_031961.3(KRTAP9-2):c.25T>A (p.Cys9Ser)	KRTAP9-2 (C9S)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623453	NM_032020.5(FUCA2):c.208G>A (p.Gly70Ser)	FUCA2 (G70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623452	NM_012190.4(ALDH1L1):c.520A>G (p.Lys174Glu)	ALDH1L1 (K174E +1 more)	Single nucleotide variant (missense variant +2 more)	High myopia	GUncertain significance
Select item 623451	NM_198993.5(STAC2):c.208C>T (p.Pro70Ser)	STAC2 (P70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623450	NM_001330988.2(SLC25A25):c.481C>T (p.Arg161Ter)	SLC25A25 (R147* +2 more)	Single nucleotide variant (nonsense +1 more)	High myopia	GUncertain significance
Select item 623449	NM_002314.4(LIMK1):c.1827G>C (p.Met609Ile)	LIMK1 (M575I +1 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623448	NM_005519.2(HMX2):c.269-1G>A	HMX2	Single nucleotide variant (splice acceptor variant)	High myopia	GUncertain significance
Select item 623447	NM_002018.4(FLII):c.3772T>C (p.Phe1258Leu)	FLII (F1203L +2 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623446	NM_020526.5(EPHA8):c.2567G>A (p.Arg856His)	EPHA8 (R856H)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623445	NM_152403.4(EGFLAM):c.1360G>A (p.Gly454Arg)	EGFLAM (G454R +1 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623444	NM_001290264.2(SLC35E2B):c.938C>T (p.Thr313Met)	SLC35E2B (T313M)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623443	NM_198391.3(FLRT3):c.1642G>C (p.Val548Leu)	FLRT3, MACROD2 (V548L)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 623442	NM_001003841.3(SLC6A19):c.1701+1G>A	SLC6A19	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 623441	NM_020808.5(SIPA1L2):c.205C>T (p.Pro69Ser)	SIPA1L2 (P69S)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623440	NM_006379.5(SEMA3C):c.908A>G (p.Asp303Gly)	SEMA3C (D303G +2 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623439	NM_005833.4(RABEPK):c.256C>T (p.Arg86Trp)	RABEPK (R86W)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 623438	NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln)	PSAT1 (K110Q)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance
Select item 623437	NM_024419.5(PGS1):c.1513G>A (p.Val505Met)	PGS1 (V505M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623436	NM_145043.4(NEIL2):c.77G>C (p.Gly26Ala)	NEIL2 (G26A)	Single nucleotide variant (missense variant +3 more)	High myopia	GUncertain significance
Select item 623435	NM_022493.3(CIAO3):c.1112G>A (p.Arg371His)	CIAO3 (R371H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623434	NM_014438.5(IL36B):c.391+2T>C	IL36B	Single nucleotide variant (splice donor variant)	High myopia	GUncertain significance
Select item 623433	NM_002182.4(IL1RAP):c.1607G>C (p.Gly536Ala)	IL1RAP (G536A)	Single nucleotide variant (missense variant +2 more)	High myopia	GUncertain significance
Select item 623432	NM_016246.3(HSD17B14):c.700G>A (p.Glu234Lys)	HSD17B14 (E234K)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623431	NM_005310.5(GRB7):c.728G>A (p.Arg243Gln)	GRB7 (R243Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623430	NM_001144774.3(ELAVL4):c.148G>A (p.Val50Ile)	ELAVL4 (V50I +4 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 623429	NM_001025248.2(DUT):c.298C>T (p.Pro100Ser)	DUT (P100S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	High myopia	GUncertain significance
Select item 623428	NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys)	CRYGD, LOC100507443 (G61C)	Single nucleotide variant (missense variant)	Aculeiform cataract +1 more	GConflicting classifications of pathogenicity
Select item 623427	NM_005666.4(CFHR2):c.430+1G>A	CFHR2	Single nucleotide variant (splice donor variant +1 more)	High myopia	GUncertain significance
Select item 623426	NM_001413067.1(ATAT1):c.566T>G (p.Phe189Cys)	ATAT1 (F189C +1 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 623425	NM_005502.4(ABCA1):c.5773C>T (p.Arg1925Trp)	ABCA1 (R1925W)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623424	NM_001282359.2(ZNF107):c.2214_2215del (p.Cys738fs)	ZNF107 (C669fs +4 more)	Microsatellite (frameshift variant)	High myopia	GUncertain significance
Select item 623423	NM_004297.4(GNA14):c.678del (p.Ala227fs)	GNA14 (A227fs)	Deletion (frameshift variant)	High myopia	GUncertain significance
Select item 623422	NM_017908.4(ZNF446):c.221T>G (p.Phe74Cys)	ZNF446 (F74C)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623421	NM_139281.3(WDR36):c.111G>T (p.Lys37Asn)	LOC129994346, WDR36 (K93N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623420	NM_021978.4(ST14):c.557G>A (p.Arg186His)	ST14 (R186H)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623419	NM_001109977.3(FHIP1A):c.2417A>G (p.Asp806Gly)	FHIP1A (D806G)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623418	NM_004213.5(SLC28A1):c.1013T>C (p.Val338Ala)	SLC28A1 (V338A)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623417	NM_006252.4(PRKAA2):c.352C>T (p.Arg118Trp)	PRKAA2 (R118W)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623416	NM_002253.4(KDR):c.2312C>T (p.Thr771Met)	KDR (T771M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 623415	NM_152246.3(CPT1B):c.754G>A (p.Val252Met)	CHKB-CPT1B, CPT1B (V252M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623414	NM_001330564.2(ZC3H13):c.1049G>T (p.Arg350Leu)	ZC3H13 (R350L)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623413	NM_020336.4(RALGAPB):c.1258T>C (p.Ser420Pro)	RALGAPB (S420P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623412	NM_018061.4(PRPF38B):c.1322G>A (p.Ser441Asn)	PRPF38B (S441N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623411	NM_018557.3(LRP1B):c.7035G>A (p.Met2345Ile)	LRP1B (M2345I)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623410	NM_032727.4(INA):c.799G>A (p.Glu267Lys)	INA (E267K)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623409	NM_001010987.2(IFIT1B):c.1153G>A (p.Gly385Ser)	IFIT1B (G385S)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623408	NM_020319.3(ANKMY2):c.203A>T (p.His68Leu)	ANKMY2 (H68L)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623407	NM_022662.4(ANAPC1):c.794T>G (p.Val265Gly)	ANAPC1 (V265G)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623406	NM_001130083.2(ABLIM2):c.1784G>A (p.Arg595His)	ABLIM2 (R561H +6 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623405	NM_014717.3(ZNF536):c.1312T>C (p.Phe438Leu)	ZNF536 (F438L)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623404	NM_018968.4(SNTG2):c.883G>C (p.Asp295His)	SNTG2 (D295H)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623403	NM_000968.4(RPL4):c.428G>A (p.Arg143His)	RPL4 (R143H)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623402	NM_002851.3(PTPRZ1):c.6169A>G (p.Ile2057Val)	PTPRZ1 (I1197V +4 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623401	NM_016631.4(PAXBP1):c.485T>C (p.Leu162Ser)	PAXBP1 (L162S)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 623400	NM_001999.4(FBN2):c.842A>G (p.Gln281Arg)	FBN2 (Q281R)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 623399	NM_000494.4(COL17A1):c.3205C>T (p.Arg1069Trp)	COL17A1 (R1069W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 623398	NM_133493.5(CD109):c.3346G>C (p.Glu1116Gln)	CD109 (E1116Q +1 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 580278	NM_005609.4(PYGM):c.160T>G (p.Phe54Val)	PYGM (F54V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 538860	NM_014855.3(AP5Z1):c.671C>T (p.Thr224Met)	AP5Z1 (T224M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 374076	NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter)	LRP2 (R4585*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 374014	NM_000266.4(NDP):c.314C>T (p.Ala105Val)	NDP, NDP-AS1 (A105V)	Single nucleotide variant (non-coding transcript variant +1 more)	Persistent hyperplastic primary vitreous +3 more	GLikely pathogenic
Select item 373962	NM_001379500.1(COL18A1):c.929-2A>G	COL18A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 373961	NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter)	COL18A1, SLC19A1 (R1327* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 349308	NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)	PDE6B (S161N)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 268023	46;X;t(X;21)(q26.1;q21.22)dn		Translocation	Delayed speech and language development +15 more	GUncertain significance
Select item 267815	46;X;t(X;5)(p11.23;q35)dn		Translocation	High myopia +14 more	GPathogenic
Select item 203931	NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)	SLC22A5 (G484V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +11 more	GPathogenic/Likely pathogenic
Select item 42394	NM_000138.5(FBN1):c.5788+5G>A	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GPathogenic/Likely pathogenic

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Items: 86