ClinVar (all) for Orgtrack (Select 505636) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437887	NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter)	WNT7B (R98*)	Single nucleotide variant (nonsense)	Matthew-Wood syndrome +1 more	GPathogenic
Select item 437886	NM_058238.3(WNT7B):c.739C>T (p.Arg247Trp)	WNT7B (R247W)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 221969	NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro)	LOC100507346, PTCH1 (T712P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 221968	NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val)	PTCH1 (I833V +4 more)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +3 more	GConflicting classifications of pathogenicity
Select item 221967	NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro)	STRA6 (R638P +4 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 221966	NM_022369.4(STRA6):c.1313A>G (p.Gln438Arg)	STRA6 (Q438R +4 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 221965	NM_003635.4(NDST2):c.199C>T (p.Arg67Trp)	NDST2, NDST2-ZSWIM8-AS1 (R67W)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221964	NM_003635.4(NDST2):c.25C>T (p.Arg9Cys)	NDST2, NDST2-ZSWIM8-AS1 (R9C)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221963	NM_182894.3(VSX2):c.667G>A (p.Gly223Arg)	VSX2 (G223R)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity
Select item 221962	NM_182894.3(VSX2):c.71dup (p.Ala25fs)	VSX2 (A25fs)	Duplication (frameshift variant)	Isolated microphthalmia 2 +1 more	GPathogenic
Select item 221961	NM_017449.5(EPHB2):c.787G>A (p.Val263Ile)	EPHB2 (V263I)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis	GLikely benign
Select item 221960	NM_000966.6(RARG):c.245C>T (p.Pro82Leu)	RARG (P82L +2 more)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis	GLikely benign
Select item 221959	NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe)	PRPF8 (S1176F)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis	GLikely benign
Select item 221958	NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg)	PITRM1, PITRM1-AS1 (K808R +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Irido-corneo-trabecular dysgenesis	GLikely benign
Select item 221957	NM_173485.6(TSHZ2):c.1289A>T (p.Gln430Leu)	TSHZ2 (Q430L +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221956	NM_003013.3(SFRP2):c.626A>G (p.Asp209Gly)	SFRP2 (D209G)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221955	NM_003183.6(ADAM17):c.847C>T (p.Arg283Cys)	ADAM17 (R283C)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221954	NM_001042413.2(GLIS3):c.2710G>C (p.Gly904Arg)	GLIS3 (G904R +1 more)	Single nucleotide variant (missense variant)	Congenital aniridia	GLikely benign
Select item 221953	NM_001173464.2(KIF21A):c.2287G>A (p.Val763Met)	KIF21A (V763M +1 more)	Single nucleotide variant (missense variant)	Congenital aniridia	GLikely benign
Select item 221952	NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)	GLI2 (T620M +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +5 more	GConflicting classifications of pathogenicity
Select item 221951	NM_005921.2(MAP3K1):c.1420A>G (p.Ile474Val)	MAP3K1 (I474V)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221950	NM_177438.3(DICER1):c.2191G>A (p.Glu731Lys)	DICER1 (E731K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 221949	NM_025074.7(FRAS1):c.3700G>A (p.Ala1234Thr)	FRAS1 (A1234T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 221948	NM_001079520.2(DACT1):c.1899G>C (p.Lys633Asn)	DACT1 (K670N +1 more)	Single nucleotide variant (missense variant +1 more)	Rieger anomaly	GLikely benign
Select item 221947	NM_024533.4(CHST5):c.737T>C (p.Ile246Thr)	CHST5	Single nucleotide variant	Rieger anomaly	GLikely benign
Select item 221946	NM_003741.4(CHRD):c.1370C>G (p.Thr457Ser)	CHRD (T457S +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221945	NM_001128205.2(SULF1):c.529G>A (p.Gly177Ser)	SULF1 (G177S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 221944	NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)	FGFR3 (E629K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 221943	NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu)	ARR3 (P351L)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 221942	NM_017617.5(NOTCH1):c.68G>T (p.Arg23Leu)	NOTCH1 (R23L)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221941	NM_025202.4(EFHD1):c.245C>T (p.Thr82Met)	EFHD1, LOC122861314 (T82M)	Single nucleotide variant (5 prime UTR variant +2 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221940	NM_001354604.2(MITF):c.736G>A (p.Asp246Asn)	MITF (D139N +6 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221939	NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg)	NOTCH1 (G812R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 221938	NM_181711.4(TAMALIN):c.1084G>A (p.Gly362Ser)	TAMALIN (G362S +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221937	NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)	RPGRIP1 (I270V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 221936	NM_205860.3(NR5A2):c.884C>T (p.Thr295Met)	NR5A2 (T295M +2 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221935	NM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly)	NOTCH4 (C815G)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome +1 more	GBenign/Likely benign
Select item 221934	NM_002627.5(PFKP):c.740dup (p.Trp248fs)	PFKP (W248fs +5 more)	Duplication (frameshift variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221933	NM_020366.4(RPGRIP1):c.2424C>G (p.Cys808Trp)	RPGRIP1 (C808W +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221932	NM_001243332.2(SEZ6L2):c.323C>T (p.Thr108Ile)	SEZ6L2 (T108I +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221931	NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)	PTCH1 (T998M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 221930	NM_012476.3(VAX2):c.398C>T (p.Thr133Ile)	VAX2 (T133I)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221929	NM_015662.3(IFT172):c.5133del (p.Trp1712fs)	IFT172, KRTCAP3 (W1712fs +1 more)	Deletion (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221928	NM_183374.3(CYP26C1):c.1243C>G (p.His415Asp)	CYP26C1 (H415D)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221927	NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala)	STRA6 (P579A +4 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 221926	NM_004625.4(WNT7A):c.232C>T (p.Arg78Cys)	WNT7A (R78C)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221925	NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys)	IFT172, LOC126806173 (R1294C)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 221924	NM_005761.3(PLXNC1):c.3649T>C (p.Cys1217Arg)	CEP83, PLXNC1 (C1217R)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221923	NM_001083603.3(PTCH1):c.4del (p.Glu2fs)	PTCH1 (E2fs)	Deletion (5 prime UTR variant +2 more)	Anophthalmia-microphthalmia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 221922	NM_001365792.1(DAB1):c.1075G>A (p.Gly359Arg)	DAB1 (G359R +1 more)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 221921	NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)	FAT4 (E44A)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 221920	NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile)	FAT1 (V1446I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 221919	NM_173485.6(TSHZ2):c.247T>G (p.Ser83Ala)	TSHZ2 (S83A +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221918	NM_004189.4(SOX14):c.723del (p.Ter241TyrextTer?)	SOX14	Deletion (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221917	NM_171999.4(SALL3):c.2254G>A (p.Val752Met)	SALL3 (V752M)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221916	NM_001080779.2(MYO1C):c.391C>T (p.Arg131Cys)	MYO1C (R131C +3 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221915	NM_001291303.3(FAT4):c.7966A>C (p.Lys2656Gln)	FAT4 (K2656Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198324	NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)	FRAS1 (R3122W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 167417	NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys)	PAX6 (N50K +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 135110	NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)	PTCH1 (D370N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 135097	NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)	PTCH1 (V1015M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 132738	NM_000264.5(PTCH1):c.3889C>T (p.Arg1297Trp)	PTCH1 (R1231W +4 more)	Single nucleotide variant (missense variant +1 more)	Rieger anomaly +2 more	GConflicting classifications of pathogenicity
Select item 132723	NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)	PTCH1 (Y1250C +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 127932	NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)	CDH1 (R224C)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 30767	NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)	FREM1 (R498Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 65