ClinVar for MedGen (Select 372103) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684215	NM_014588.6(VSX1):c.627+23G>A	VSX1 (R217H)	Single nucleotide variant (missense variant +1 more)	Keratoconus 1	GBenign
Select item 719585	NM_014588.6(VSX1):c.2T>A (p.Met1Lys)	VSX1 (M1K)	Single nucleotide variant (missense variant +2 more)	Keratoconus 1 +2 more	GLikely benign
Select item 337959	NM_014588.6(VSX1):c.731A>G (p.His244Arg)	VSX1 (H244R +1 more)	Single nucleotide variant (missense variant +2 more)	Polymorphous corneal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 337958	NM_014588.6(VSX1):c.740C>G (p.Pro247Arg)	VSX1 (P247R +1 more)	Single nucleotide variant (missense variant +2 more)	Keratoconus 1 +3 more	GConflicting classifications of pathogenicity
Select item 225703	NM_025130.4(HKDC1):c.850G>A (p.Gly284Ser)	HKDC1 (G284S)	Single nucleotide variant (missense variant)	Keratoconus 1	GUncertain significance
Select item 225702	NM_014443.3(IL17B):c.527G>A (p.Cys176Tyr)	IL17B (C176Y +1 more)	Single nucleotide variant (missense variant)	Keratoconus 1	GUncertain significance
Select item 225701	NM_001161546.2(PROB1):c.671G>A (p.Gly224Asp)	LOC129994769, PROB1 +1 more (G224D)	Single nucleotide variant (missense variant)	Keratoconus 1	GUncertain significance
Select item 225700	NM_170679.3(SKP1):c.456+19T>G	SKP1 (C159G)	Single nucleotide variant (missense variant +1 more)	Keratoconus 1	GUncertain significance
Select item 126947	NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del)	ZNF469	Deletion (inframe_deletion)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 126946	NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln)	ZNF469 (R2644Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 126945	NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys)	ZNF469 (E2611K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 126944	NM_001367624.2(ZNF469):c.5681A>T (p.Gln1894Leu)	ZNF469 (Q1894L)	Single nucleotide variant (missense variant)	Keratoconus 1	GPathogenic
Select item 126943	NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)	ZNF469 (R1715K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 126942	NM_001367624.2(ZNF469):c.337G>A (p.Glu113Lys)	ZNF469 (E113K)	Single nucleotide variant (missense variant)	Keratoconus 1	GPathogenic
Select item 126941	NM_001367624.2(ZNF469):c.3320G>A (p.Arg1107Gln)	ZNF469 (R1107Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 126940	NM_001367624.2(ZNF469):c.2898GTCGGG[1] (p.967SG[1])	ZNF469	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 126939	NM_001367624.2(ZNF469):c.2699C>G (p.Pro900Arg)	ZNF469 (P900R)	Single nucleotide variant (missense variant)	Keratoconus 1	GPathogenic
Select item 126938	NM_001367624.2(ZNF469):c.2063C>A (p.Thr688Asn)	ZNF469 (T688N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 126937	NM_001367624.2(ZNF469):c.1627G>A (p.Gly543Ser)	ZNF469 (G543S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 126936	NM_001367624.2(ZNF469):c.99G>A (p.Pro33=)	ZNF469	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 126935	NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)	ZNF469 (T3307A)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 126934	NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)	ZNF469	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 126933	NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)	ZNF469 (T3044M)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GUncertain significance
Select item 126932	NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)	ZNF469 (G2999V)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 126931	NM_001367624.2(ZNF469):c.77G>C (p.Ser26Thr)	ZNF469 (S26T)	Single nucleotide variant (missense variant)	Keratoconus 1	GPathogenic
Select item 126930	NM_001367624.2(ZNF469):c.720G>A (p.Glu240=)	ZNF469	Single nucleotide variant (synonymous variant)	Keratoconus 1	GLikely pathogenic
Select item 126929	NM_001367624.2(ZNF469):c.6809C>A (p.Ser2270Tyr)	ZNF469 (S2270Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 126928	NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)	ZNF469 (S2060Y)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 126927	NM_001367624.2(ZNF469):c.6091G>A (p.Glu2031Lys)	ZNF469 (E2031K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 126926	NM_001367624.2(ZNF469):c.4910G>C (p.Arg1637Pro)	ZNF469 (R1637P)	Single nucleotide variant (missense variant)	Keratoconus 1	GBenign
Select item 126925	NM_001367624.2(ZNF469):c.4447G>T (p.Ala1483Ser)	ZNF469 (A1483S)	Single nucleotide variant (missense variant)	Keratoconus 1	GPathogenic
Select item 126924	NM_001367624.2(ZNF469):c.3119A>C (p.Lys1040Thr)	ZNF469 (K1040T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 126923	NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu)	ZNF469 (P97L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 126922	NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)	ZNF469 (P900L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 126921	NM_001367624.2(ZNF469):c.2643C>G (p.Ser881=)	ZNF469	Single nucleotide variant (synonymous variant)	Keratoconus 1	GBenign
Select item 126920	NM_001367624.2(ZNF469):c.2478G>T (p.Pro826=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 126919	NM_001367624.2(ZNF469):c.11699C>T (p.Pro3900Leu)	ZNF469 (P3900L)	Single nucleotide variant (missense variant)	Keratoconus 1	GPathogenic
Select item 126918	NM_001367624.2(ZNF469):c.11185G>A (p.Gly3729Ser)	ZNF469 (G3729S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 126917	NM_001367624.2(ZNF469):c.10927C>T (p.Leu3643=)	ZNF469	Single nucleotide variant (synonymous variant)	Keratoconus 1	GLikely pathogenic
Select item 126916	NM_001367624.2(ZNF469):c.10573G>A (p.Glu3525Lys)	ZNF469 (E3525K)	Single nucleotide variant (missense variant)	Keratoconus 1	GBenign
Select item 126915	NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 5251	NM_014588.6(VSX1):c.50T>C (p.Leu17Pro)	VSX1 (L17P)	Single nucleotide variant (missense variant +1 more)	VSX1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 5249	NM_014588.6(VSX1):c.475T>A (p.Leu159Met)	VSX1 (L159M)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GLikely benign
Select item 5247	NM_014588.6(VSX1):c.496C>T (p.Arg166Trp)	VSX1 (R166W)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 44