C0349588[trait identifier] AND "Institute of Human Genetics, FAU Erlan - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599551	NM_020765.3(UBR4):c.14237C>T (p.Pro4746Leu)	UBR4 (P4746L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599553	NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr)	UBR4 (P4610T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599550	NM_020765.3(UBR4):c.10388G>A (p.Arg3463His)	LOC126805641, UBR4 (R3463H)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599501	NM_020765.3(UBR4):c.7031A>G (p.Asn2344Ser)	UBR4 (N2344S)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599552	NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)	UBR4 (G2109S)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599502	NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly)	UBR4 (R1349G)	Single nucleotide variant (missense variant)	UBR4-associated neurodevelopmental syndrome	GUncertain significance
Select item 599503	NM_013943.3(CLIC4):c.220C>T (p.His74Tyr)	CLIC4 (H74Y)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599583	NM_133178.4(PTPRU):c.2531C>T (p.Pro844Leu)	PTPRU (P844L +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599585	NM_133178.4(PTPRU):c.3136G>A (p.Val1046Ile)	PTPRU (V1043I +3 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599584	NM_133178.4(PTPRU):c.4165A>C (p.Met1389Leu)	LOC122056818, PTPRU (M1386L +3 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599522	NM_001394062.1(MACF1):c.3827G>A (p.Arg1276Gln)	MACF1 (R1281Q +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599521	NM_001394062.1(MACF1):c.12482A>G (p.Lys4161Arg)	MACF1 (K2099R +1 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599524	NM_001394062.1(MACF1):c.17989-11C>T	MACF1	Single nucleotide variant (intron variant)	Short stature	GUncertain significance
Select item 599525	NM_001394062.1(MACF1):c.18687G>T (p.Trp6229Cys)	MACF1 (W4170C +1 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599523	NM_001394062.1(MACF1):c.22433G>A (p.Arg7478His)	MACF1 (R5353H +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599595	NM_015306.3(USP24):c.7448-7C>T	USP24	Single nucleotide variant (intron variant)	Short stature	GLikely pathogenic
Select item 599596	NM_015306.3(USP24):c.2747A>T (p.Tyr916Phe)	USP24 (Y916F)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599597	NM_015306.3(USP24):c.2491A>G (p.Met831Val)	USP24 (M831V)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599533	NM_004284.6(CHD1L):c.1929del (p.Arg643fs)	CHD1L (R480fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 599506	NM_014856.3(DENND4B):c.2828G>C (p.Trp943Ser)	DENND4B (W943S +1 more)	Single nucleotide variant (missense variant)	DENND4B-related condition	GLikely benign
Select item 599505	NM_014856.3(DENND4B):c.1825C>T (p.Leu609Phe)	DENND4B (L609F +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599482	NM_025191.4(EDEM3):c.2431G>T (p.Asp811Tyr)	EDEM3 (D811Y +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic
Select item 599481	NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val)	EDEM3 (L402V)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic
Select item 599542	NM_001386125.1(OBSCN):c.7595C>T (p.Ala2532Val)	OBSCN (A2157V +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599540	NM_001386125.1(OBSCN):c.8582C>T (p.Thr2861Met)	OBSCN (T2432M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599541	NM_001386125.1(OBSCN):c.21658G>C (p.Ala7220Pro)	OBSCN (A6263P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599574	NM_001330442.2(MTA3):c.635G>A (p.Cys212Tyr)	MTA3 (C212Y +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599526	NM_018031.6(WDR6):c.2543G>A (p.Arg848His)	WDR6 (R848H +2 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599592	NM_006841.6(SLC38A3):c.686T>C (p.Ile229Thr)	SLC38A3 (I229T)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599591	NM_006841.6(SLC38A3):c.1108C>A (p.Arg370Ser)	SLC38A3 (R370S)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599593	NM_006841.6(SLC38A3):c.1441C>A (p.Leu481Met)	SLC38A3 (L481M)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599577	NM_015009.3(PDZRN3):c.2101A>C (p.Ser701Arg)	PDZRN3 (S701R +4 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599578	NM_015009.3(PDZRN3):c.1417-10T>C	PDZRN3	Single nucleotide variant (intron variant)	Short stature	GLikely pathogenic
Select item 599479	NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp)	CPZ (R154W +2 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599480	NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp)	CPZ (G430W +2 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599571	NM_004362.3(CLGN):c.959A>G (p.Lys320Arg)	CLGN (K320R)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599572	NM_004362.3(CLGN):c.731A>G (p.Asp244Gly)	CLGN (D244G)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599573	NM_004362.3(CLGN):c.386C>A (p.Pro129Gln)	CLGN (P129Q)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599594	NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln)	SMARCA5 (K314Q)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599510	NM_003862.3(FGF18):c.211C>T (p.Arg71Cys)	FGF18 (R71C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599566	NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala)	ADGRB3 (V765A)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599565	NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys)	ADGRB3 (R1433K)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599555	NM_001346022.3(USP45):c.1990G>T (p.Gly664Ter)	TSTD3, USP45 (G664* +4 more)	Single nucleotide variant (nonsense +1 more)	Short stature	GPathogenic
Select item 599554	NM_001346022.3(USP45):c.1567A>G (p.Ser523Gly)	TSTD3, USP45 (S523G +4 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic
Select item 599556	NM_001346022.3(USP45):c.727G>A (p.Val243Met)	TSTD3, USP45 (V243M +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 599557	NM_001346022.3(USP45):c.178T>G (p.Ser60Ala)	TSTD3, USP45 (S60A +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 599588	NM_001378902.1(ROS1):c.4583del (p.Asn1528fs)	ROS1 (N1534fs +2 more)	Deletion (frameshift variant)	Short stature	GPathogenic
Select item 599589	NM_001378902.1(ROS1):c.3073A>G (p.Thr1025Ala)	ROS1 (T1030A +2 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599519	NM_032410.4(HOOK3):c.225T>G (p.Asn75Lys)	HOOK3 (N75K)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599518	NM_032410.4(HOOK3):c.1150G>A (p.Glu384Lys)	HOOK3 (E384K)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599590	NM_175635.3(RUNX1T1):c.66_67insT (p.Pro23fs)	RUNX1T1 (P119fs +6 more)	Insertion (frameshift variant)	Short stature	GPathogenic
Select item 599515	NM_025130.4(HKDC1):c.301G>T (p.Gly101Trp)	HKDC1, LOC126860950 (G101W)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599516	NM_025130.4(HKDC1):c.1009C>T (p.Arg337Trp)	HKDC1 (R337W)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599517	NM_025130.4(HKDC1):c.1088C>T (p.Pro363Leu)	HKDC1 (P363L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599543	NM_002645.4(PIK3C2A):c.1640+1G>T	PIK3C2A	Single nucleotide variant (splice donor variant)	Oculocerebrodental syndrome +1 more	GPathogenic
Select item 599576	NM_002556.3(OSBP):c.1519C>T (p.Arg507Ter)	OSBP (R507*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic
Select item 599545	NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter)	VWCE (R545*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic
Select item 599528	NM_144982.5(ZFC3H1):c.5885T>C (p.Leu1962Pro)	ZFC3H1 (L1962P)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599529	NM_144982.5(ZFC3H1):c.947G>A (p.Arg316His)	ZFC3H1 (R316H)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599486	NM_014055.4(IFT81):c.259C>T (p.Arg87Cys)	IFT81 (R87C)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 599487	NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys)	IFT81 (R384C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 599504	NM_001247997.2(CLIP1):c.430C>T (p.Arg144Ter)	CLIP1 (R144*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic
Select item 599575	NM_001278432.2(N4BP2L2):c.1406dup (p.Asn469fs)	N4BP2L2 (N913fs +7 more)	Duplication (frameshift variant +1 more)	Short stature	GPathogenic
Select item 599497	NM_007368.4(RASA3):c.892_895del (p.Asp298fs)	RASA3 (D266fs +1 more)	Deletion (frameshift variant +1 more)	Short stature	GPathogenic
Select item 599498	NM_007368.4(RASA3):c.254T>C (p.Val85Ala)	RASA3 (V85A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Short stature	GLikely pathogenic
Select item 599499	NM_012244.4(SLC7A8):c.851A>G (p.Asn284Ser)	SLC7A8 (N179S +3 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599500	NM_012244.4(SLC7A8):c.730G>A (p.Ala244Thr)	SLC7A8 (A139T +2 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 599586	NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys)	RNF31 (Y778C +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599587	NM_017999.5(RNF31):c.2480G>A (p.Arg827His)	RNF31 (R827H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599564	NM_133450.4(ANKS3):c.1960dup (p.Arg654fs)	ANKS3 (R525fs +4 more)	Duplication (frameshift variant +1 more)	Short stature	GPathogenic
Select item 599483	NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser)	FBRS (G713S)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599485	NM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu)	FBRS (P865L)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599484	NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)	FBRS (P966A)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599558	NM_006885.4(ZFHX3):c.8548G>A (p.Glu2850Lys)	ZFHX3, ZFHX3-AS1 (E2850K +1 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599559	NM_006885.4(ZFHX3):c.3757C>T (p.Arg1253Cys)	ZFHX3, ZFHX3-AS1 (R1253C +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599582	NM_002815.4(PSMD11):c.850-3_850del	PSMD11	Microsatellite	Short stature	GPathogenic
Select item 599496	NM_014815.4(MED24):c.2288G>A (p.Arg763Gln)	MED24 (R763Q +2 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic
Select item 599495	NM_014815.4(MED24):c.1247C>G (p.Thr416Ser)	MED24 (T416S +2 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic
Select item 599511	NM_001466.4(FZD2):c.655C>T (p.Arg219Cys)	FZD2 (R219C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 599512	NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg)	FZD2 (L468R)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599509	NM_173628.4(DNAH17):c.6563G>A (p.Arg2188Gln)	DNAH17, DNAH17-AS1 (R2188Q)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599507	NM_173628.4(DNAH17):c.3766G>A (p.Gly1256Arg)	DNAH17 (G1256R)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599508	NM_173628.4(DNAH17):c.779C>T (p.Ala260Val)	DNAH17 (A260V)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599568	NM_024899.4(CEP76):c.1874G>A (p.Arg625His)	CEP76, PSMG2 (R625H +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 599570	NM_024899.4(CEP76):c.985G>A (p.Ala329Thr)	CEP76, PSMG2 (A329T +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GUncertain significance
Select item 599569	NM_024899.4(CEP76):c.108A>G (p.Ile36Met)	CEP76, PSMG2 (I36M)	Single nucleotide variant (missense variant +2 more)	Short stature	GUncertain significance
Select item 599514	NM_001142966.3(GREB1L):c.111T>G (p.Phe37Leu)	GREB1L, LOC101927521 (F37L)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599513	NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)	LOC101927521, GREB1L (R330W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599581	NM_002695.5(POLR2E):c.233-2A>G	POLR2E	Single nucleotide variant (splice acceptor variant)	Short stature	GPathogenic
Select item 599567	NM_001379291.1(BRD4):c.1856G>T (p.Ser619Ile)	BRD4 (S619I)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599534	NM_001012728.2(DPRX):c.466C>T (p.Arg156Ter)	DPRX (R156*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic
Select item 599530	NM_017908.4(ZNF446):c.853G>T (p.Gly285Cys)	ZNF446 (G285C)	Single nucleotide variant (missense variant +1 more)	Short stature	GUncertain significance
Select item 599531	NM_017908.4(ZNF446):c.1028G>A (p.Trp343Ter)	ZNF446 (W343*)	Single nucleotide variant (nonsense +1 more)	Short stature	GPathogenic
Select item 599532	NM_017908.4(ZNF446):c.1240C>T (p.Arg414Cys)	ZNF446 (R414C)	Single nucleotide variant (missense variant +1 more)	Short stature	GUncertain significance
Select item 599544	NM_002862.4(PYGB):c.2047A>G (p.Met683Val)	PYGB (M683V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599539	NM_020884.5(MYH7B):c.1272_1273del (p.Ser425Cysfs)	MYH7B	Microsatellite (splice donor variant)	Short stature	GPathogenic
Select item 599536	NM_020884.7(MYH7B):c.1579_1581del (p.Ile527del)	MYH7B (I527del)	Deletion (inframe_deletion)	Short stature	GUncertain significance
Select item 599537	NM_020884.7(MYH7B):c.2986G>A (p.Val996Met)	MYH7B (V996M)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599538	NM_020884.7(MYH7B):c.4190+5G>C	MYH7B	Single nucleotide variant (intron variant)	Short stature	GUncertain significance
Select item 599535	NM_020884.7(MYH7B):c.4949C>G (p.Thr1650Arg)	MYH7B (T1650R)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance

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