C4551563[trait identifier] AND "Department of Pediatrics, Samsung Medi - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypotonia +2 more	GPathogenic/Likely pathogenic
Select item 373801	NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val)	PRDM16 (L939V)	Single nucleotide variant (missense variant)	PRDM16-related condition +2 more	GBenign/Likely benign
Select item 813541	NM_015047.3(EMC1):c.2650G>A (p.Glu884Lys)	EMC1, EMC1-AS1 (E883K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 556961	NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	ALPL (A177T +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 295692	NM_005529.7(HSPG2):c.13153A>G (p.Asn4385Asp)	HSPG2, LDLRAD2 (N4385D +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 811721	NM_005529.7(HSPG2):c.11206C>T (p.Arg3736Trp)	HSPG2 (R3736W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 295734	NM_005529.7(HSPG2):c.10589G>A (p.Arg3530Gln)	HSPG2 (R3530Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 744557	NM_005529.7(HSPG2):c.10234A>G (p.Ser3412Gly)	HSPG2 (S3412G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 813562	NM_005529.7(HSPG2):c.6529G>A (p.Gly2177Arg)	HSPG2, LOC126805655 (G2178R +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813624	NM_003665.4(FCN3):c.386G>A (p.Gly129Asp)	FCN3 (G118D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813659	NM_032793.5(MFSD2A):c.1126C>G (p.Leu376Val)	MFSD2A (L337V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813641	NM_000098.3(CPT2):c.626C>T (p.Ala209Val)	CPT2 (A209V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GUncertain significance
Select item 813680	NM_001368809.2(AMPD2):c.700G>T (p.Asp234Tyr)	AMPD2 (D170Y +3 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813703	NM_001111.5(ADAR):c.1295T>A (p.Leu432Gln)	ADAR (L432Q +2 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813682	NM_001162383.2(ARHGEF2):c.2935G>T (p.Gly979Trp)	ARHGEF2 (G979W +4 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813536	NM_001162383.2(ARHGEF2):c.1701G>C (p.Gln567His)	ARHGEF2 (Q540H +4 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813632	NM_016343.4(CENPF):c.6229G>T (p.Ala2077Ser)	CENPF (A2077S)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813623	NM_016343.4(CENPF):c.6889C>T (p.His2297Tyr)	CENPF (H2297Y)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813549	NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val)	RAB3GAP2 (L174V)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 813550	NM_012414.4(RAB3GAP2):c.10T>C (p.Ser4Pro)	RAB3GAP2 (S4P)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813548	NM_013328.4(PYCR2):c.437G>A (p.Gly146Glu)	PYCR2 (G146E)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813563	NM_001010867.4(IBA57):c.923G>T (p.Gly308Val)	IBA57 (G308V +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813621	NM_000029.4(AGT):c.1270-1G>A	AGT	Single nucleotide variant	Microcephaly	GUncertain significance
Select item 296311	NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu)	B3GALNT2, LOC126806060 +1 more (P466L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 813570	NM_000143.4(FH):c.596C>G (p.Ala199Gly)	FH (A199G)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 654367	NM_000143.4(FH):c.415G>A (p.Val139Met)	FH (V139M)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 813593	NM_001365480.1(CCDC88A):c.4265C>G (p.Pro1422Arg)	CCDC88A (P1422R +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813663	NM_003038.5(SLC1A4):c.240G>C (p.Glu80Asp)	SLC1A4 (E80D)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813658	NM_001374353.1(GLI2):c.2689C>T (p.Arg897Trp)	GLI2 (R772W +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 813530	NM_001374353.1(GLI2):c.4576C>T (p.Arg1526Cys)	GLI2 (R1526C +2 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 206059	NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr)	MBD5 (S174T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813584	NM_000888.5(ITGB6):c.1651C>T (p.Leu551Phe)	ITGB6 (L551F +4 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813533	NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr)	LOC102724058, SCN1A (M1531T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 813607	NM_001365536.1(SCN9A):c.3752A>G (p.Lys1251Arg)	SCN1A-AS1, SCN9A (K1240R +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813696	NM_020919.4(ALS2):c.4871T>C (p.Ile1624Thr)	ALS2 (I1624T)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 813608	NM_001371986.1(UNC80):c.4565A>G (p.Asn1522Ser)	UNC80 (N1451S +2 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813594	NM_001277062.2(MFF):c.612TGG[1] (p.Gly206del)	MFF (G167del +3 more)	Microsatellite (inframe_deletion +1 more)	Microcephaly	GUncertain significance
Select item 813561	NM_001378414.1(HDAC4):c.3094T>C (p.Tyr1032His)	HDAC4 (Y1027H +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813720	GRCh37/hg19 2q23.1(chr2:148710290-149021799)	ORC4, MBD5	Copy number loss	Microcephaly	GPathogenic
Select item 813715	GRCh37/hg19 2q24.3(chr2:166340583-166904859)	SCN1A, CSRNP3 +2 more	Copy number loss	Microcephaly	GPathogenic
Select item 746343	NM_001080517.3(SETD5):c.3338A>G (p.His1113Arg)	SETD5 (H1015R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 813576	NM_005051.3(QARS1):c.1613G>A (p.Arg538Gln)	QARS1 (R527Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 813595	NM_015426.5(POC1A):c.769G>A (p.Asp257Asn)	POC1A (D219N +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 343268	NM_052989.3(IFT122):c.3533G>A (p.Arg1178His)	IFT122 (R1229H +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 813582	NM_001184.4(ATR):c.3637A>G (p.Ser1213Gly)	ATR (S1213G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813558	NM_001184.4(ATR):c.3566C>T (p.Pro1189Leu)	ATR (P1189L +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813683	NM_001184.4(ATR):c.530G>A (p.Arg177Gln)	ATR (R177Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813674	NM_139125.4(MASP1):c.1609G>C (p.Ala537Pro)	MASP1 (A537P)	Single nucleotide variant (missense variant +2 more)	Microcephaly	GUncertain significance
Select item 813633	NM_001004356.3(FGFRL1):c.335A>G (p.Tyr112Cys)	FGFRL1 (Y112C)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813670	NM_001012614.2(CTBP1):c.629G>A (p.Ser210Asn)	CTBP1-AS, CTBP1 (S210N +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813572	NM_178557.4(NAT8L):c.901G>A (p.Glu301Lys)	NAT8L (E301K)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 347903	NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)	CC2D2A (T1401S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +4 more	GConflicting classifications of pathogenicity
Select item 697809	NM_025074.7(FRAS1):c.8414A>G (p.Asn2805Ser)	FRAS1 (N2805S)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 813618	NM_014991.6(WDFY3):c.1483A>G (p.Ile495Val)	WDFY3 (I495V)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813706	NM_001291303.3(FAT4):c.1012G>A (p.Glu338Lys)	FAT4 (E338K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813565	NM_014264.5(PLK4):c.569T>C (p.Leu190Pro)	PLK4 (L158P +2 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813589	NM_198253.3(TERT):c.2914C>T (p.Arg972Cys)	TERT (R972C +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813612	NM_001098511.3(KIF2A):c.19G>C (p.Gly7Arg)	KIF2A, LOC129993961 (G7R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 813713	NM_005573.4(LMNB1):c.1091T>C (p.Leu364Pro)	LMNB1 (L364P +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813649	NM_004598.4(SPOCK1):c.313G>A (p.Ala105Thr)	SPOCK1 (A105T)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813539	NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg)	DIAPH1 (G438R +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +2 more	GUncertain significance
Select item 782817	NM_020117.11(LARS1):c.923G>A (p.Arg308His)	LARS1 (R262H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 813699	NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys)	PDGFRB (E299K +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 477618	NM_001371623.1(TCOF1):c.4388A>G (p.Lys1463Arg)	TCOF1 (K1462R +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 813661	NM_022455.5(NSD1):c.7669G>C (p.Gly2557Arg)	NSD1 (G2288R +6 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813647	NM_001003699.4(RREB1):c.485C>T (p.Pro162Leu)	RREB1 (P162L)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 719131	NM_001003699.4(RREB1):c.2690A>G (p.Asn897Ser)	RREB1 (N897S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 813711	NM_004973.4(JARID2):c.2123A>C (p.Tyr708Ser)	JARID2 (Y536S +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813569	NM_021922.3(FANCE):c.953A>G (p.Glu318Gly)	FANCE (E318G)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813617	NM_005068.3(SIM1):c.2267A>G (p.Lys756Arg)	SIM1 (K756R)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 813559	NM_015076.5(CDK19):c.1184C>T (p.Ala395Val)	CDK19 (A351V +2 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813573	NM_138459.5(NUS1):c.82G>C (p.Val28Leu)	NUS1 (V28L)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813688	NM_152730.6(TBC1D32):c.3566A>G (p.Gln1189Arg)	TBC1D32 (Q1189R +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813553	NM_152730.6(TBC1D32):c.1915A>C (p.Ile639Leu)	TBC1D32 (I639L)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813554	NM_152730.6(TBC1D32):c.1913C>T (p.Ser638Phe)	TBC1D32 (S638F)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813557	NM_001374828.1(ARID1B):c.5774G>A (p.Arg1925Gln)	ARID1B (R1092Q +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 813718	GRCh37/hg19 6q25.3(chr6:157075546-157443054)	ARID1B	Copy number gain	Microcephaly	GPathogenic
Select item 813702	NM_012453.4(TBL2):c.20C>T (p.Ser7Leu)	LOC129998595, TBL2 (S7L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 813606	NM_033026.6(PCLO):c.2212C>T (p.Pro738Ser)	PCLO (P738S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93108	NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)	GATAD1, PEX1 (A931D +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 813551	NM_152703.5(SAMD9L):c.3033T>G (p.Ile1011Met)	SAMD9L (I1011M)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813694	NM_152703.5(SAMD9L):c.2114A>G (p.Tyr705Cys)	SAMD9L (Y705C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 49 +3 more	GLikely benign
Select item 813701	NM_152703.5(SAMD9L):c.2037T>G (p.Phe679Leu)	SAMD9L (F679L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 813532	NM_018077.3(RBM28):c.1728G>C (p.Glu576Asp)	RBM28 (E576D +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813687	NM_005631.5(SMO):c.536C>T (p.Thr179Met)	SMO (T179M)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813693	NM_170606.3(KMT2C):c.14057A>G (p.Asn4686Ser)	KMT2C (N4686S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 813685	NM_170606.3(KMT2C):c.8250G>T (p.Arg2750Ser)	KMT2C (R2750S)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813619	NM_170606.3(KMT2C):c.7505C>T (p.Pro2502Leu)	KMT2C (P2502L)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813714	GRCh37/hg19 7q11.22(chr7:69404786-70206198)	AUTS2	Copy number loss	Microcephaly	GPathogenic
Select item 813531	NM_024596.5(MCPH1):c.148G>A (p.Val50Ile)	MCPH1 (V16I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 30103	NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)	GATA4 (P407Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 813601	NM_001102401.4(TTI2):c.1414C>T (p.Arg472Trp)	MAK16, TTI2 (R441W +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 813602	NM_001102401.4(TTI2):c.1064G>A (p.Arg355His)	TTI2 (R355H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 813568	NM_000037.4(ANK1):c.1258G>A (p.Val420Met)	ANK1 (V453M +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813707	NM_006904.7(PRKDC):c.8458A>G (p.Met2820Val)	PRKDC (M2820V)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813675	NM_006904.7(PRKDC):c.7253A>G (p.Lys2418Arg)	PRKDC (K2418R)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813628	NM_006904.7(PRKDC):c.2600A>G (p.Asn867Ser)	PRKDC (N867S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813635	NM_006904.7(PRKDC):c.2297C>G (p.Ala766Gly)	PRKDC (A766G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813644	NM_182746.3(MCM4):c.1205A>G (p.Asn402Ser)	MCM4 (N402S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813692	NM_017780.4(CHD7):c.6302T>C (p.Leu2101Pro)	CHD7 (L2101P)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance

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