ClinVar for MedGen (Select 44015) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577488	NM_001845.6(COL4A1):c.976G>A (p.Gly326Ser)	COL4A1 (G326S)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2577487	NM_000393.5(COL5A2):c.4364G>A (p.Gly1455Glu)	COL5A2 (G1455E)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2498244	NM_001355281.2(NANOGP8):c.190G>T (p.Asp64Tyr)	NANOGP8 (D64Y)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2498243	NM_001304359.2(MUC5AC):c.10301C>T (p.Pro3434Leu)	MUC5AC (P3434L)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2498242	NM_001304359.2(MUC5AC):c.5459G>A (p.Arg1820Gln)	MUC5AC (R1820Q)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2498241	NM_001304359.2(MUC5AC):c.3601C>T (p.Arg1201Trp)	MUC5AC (R1201W)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2498240	NM_013289.4(KIR3DL1):c.475G>T (p.Gly159Trp)	KIR3DL1 (G159W)	Single nucleotide variant (synonymous variant +2 more)	Keratoconus	GUncertain significance
Select item 2498239	NM_013289.4(KIR3DL1):c.337G>A (p.Val113Met)	KIR3DL1 (V113M)	Single nucleotide variant (synonymous variant +1 more)	Keratoconus	GUncertain significance
Select item 2498238	NM_014512.1(KIR2DS1):c.272A= (p.Lys91=)	KIR2DL1 (T91K)	Single nucleotide variant (missense variant +1 more)	Keratoconus	GUncertain significance
Select item 2498237	NT_113889.1:g.54175G>A	(R14W)	Single nucleotide variant (missense variant +1 more)	Keratoconus	GUncertain significance
Select item 2498236	NC_000004.12:g.69391612A>G		Single nucleotide variant	Keratoconus	GUncertain significance
Select item 2498235	NM_145314.3(UCMA):c.413C>G (p.Thr138Ser)	UCMA (T106S +2 more)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2498234	NM_001303264.2(TSC22D2):c.1702G>T (p.Ala568Ser)	TSC22D2 (A568S)	Single nucleotide variant (missense variant +1 more)	Keratoconus	GUncertain significance
Select item 2498233	NC_000007.14:g.142581165C>G	TRB, TRBV12-5	Single nucleotide variant	Keratoconus	GUncertain significance
Select item 2498232	NC_000014.9:g.22007908A>C	TRA, TRAV19	Single nucleotide variant	Keratoconus	GUncertain significance
Select item 2498231	NC_000014.9:g.22007907C>T	TRA, TRAV19	Single nucleotide variant	Keratoconus	GUncertain significance
Select item 2498230	NM_004289.7(NFE2L3):c.932A>G (p.Gln311Arg)	NFE2L3 (Q311R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2498229	NM_001351365.2(NBPF19):c.11302C>G (p.Leu3768Val)	NBPF19 (L3768V)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2498228	NC_000007.14:g.129126742_129126748del		Deletion (non-coding transcript variant)	Keratoconus	GUncertain significance
Select item 2445999	NM_015175.3(NBEAL2):c.7878+2T>A	NBEAL2	Single nucleotide variant (splice donor variant)	Keratoconus	GLikely pathogenic
Select item 2445998	NM_001320714.2(DOP1B):c.1227_1228del (p.Gln410fs)	DOP1B (Q410fs)	Deletion (frameshift variant)	Keratoconus	GLikely pathogenic
Select item 2445997	NM_001039753.4(EML6):c.2528G>T (p.Trp843Leu)	EML6 (W843L)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2445980	NM_000875.5(IGF1R):c.1447G>A (p.Gly483Arg)	IGF1R (G483R)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2445979	NM_004838.4(HOMER3):c.434G>A (p.Ser145Asn)	HOMER3 (S145N +1 more)	Single nucleotide variant (missense variant +1 more)	Keratoconus	GLikely pathogenic
Select item 2442791	NM_000691.5(ALDH3A1):c.703G>A (p.Gly235Arg)	ALDH3A1 (G162R +1 more)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2430291	NM_000368.5(TSC1):c.622A>G (p.Ser208Gly)	TSC1 (S157G +2 more)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 545133	NM_001395430.1(PAK6):c.1855C>A (p.Pro619Thr)	BUB1B-PAK6, PAK6 (P619T)	Single nucleotide variant (missense variant +1 more)	Keratoconus	GUncertain significance
Select item 545132	NM_001042492.3(NF1):c.5257G>C (p.Val1753Leu)	NF1 (V1732L +1 more)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 545131	NM_001395010.1(DAB2IP):c.2759C>T (p.Pro920Leu)	DAB2IP (P796L +2 more)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 545130	NM_173165.3(NFATC3):c.1922G>A (p.Arg641Gln)	NFATC3 (R641Q)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 545129	NM_001282426.2(PIK3CG):c.711del (p.Asp238fs)	PIK3CG (D238fs)	Deletion (frameshift variant)	Keratoconus	GUncertain significance
Select item 545128	NM_015719.4(COL5A3):c.4204A>C (p.Lys1402Gln)	COL5A3 (K1402Q)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 545127	NM_005605.5(PPP3CC):c.1199T>C (p.Met400Thr)	PPP3CC (M400T +1 more)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 545126	NM_002336.3(LRP6):c.4822C>T (p.Pro1608Ser)	LRP6 (P1608S)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 545125	NM_138959.3(VANGL1):c.41C>T (p.Ser14Leu)	VANGL1 (S14L)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 545124	NM_001466.4(FZD2):c.1238G>A (p.Arg413Gln)	FZD2 (R413Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 545123	NM_005975.4(PTK6):c.1066C>A (p.Pro356Thr)	PTK6 (P356T)	Single nucleotide variant (3 prime UTR variant +1 more)	Keratoconus	GUncertain significance
Select item 459803	NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)	PLOD1 (E37K +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +2 more	GUncertain significance
Select item 337970	NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)	VSX1 (P58L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 225320	NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	COL1A1 (A1256T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +8 more	GConflicting classifications of pathogenicity
Select item 126928	NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)	ZNF469 (S2060Y)	Single nucleotide variant (missense variant)	ZNF469-related condition +3 more	GBenign/Likely benign
Select item 50262	NM_005430.4(WNT1):c.1063G>T (p.Val355Phe)	WNT1 (V355F)	Single nucleotide variant (missense variant)	Keratoconus +1 more	GConflicting classifications of pathogenicity

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Items: 42