ClinVar for MedGen (Select 42224) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431657	NM_015313.3(ARHGEF12):c.4449_4455del (p.Met1483fs)	ARHGEF12 (M1380fs +2 more)	Deletion (frameshift variant)	Glaucoma	GUncertain significance
Select item 877041	NM_000261.2(MYOC):c.31T>C (p.Phe11Leu)	MYOC (F11L)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 877000	NM_000261.2(MYOC):c.573T>A (p.Thr191=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 876999	NM_000261.2(MYOC):c.600A>G (p.Arg200=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 876089	NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)	MYOC (G12R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 876022	NM_000261.2(MYOC):c.611C>T (p.Thr204Met)	MYOC (T204M)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 876021	NM_000261.2(MYOC):c.612G>A (p.Thr204=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 876020	NM_000261.2(MYOC):c.624C>G (p.Asp208Glu)	MYOC (D208E)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GLikely benign FDA Recognized database
Select item 875956	NM_000261.2(MYOC):c.1053C>T (p.Thr351=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 875955	NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys)	MYOC (E352K)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GBenign FDA Recognized database
Select item 875954	NM_000261.2(MYOC):c.1272G>C (p.Gln424His)	MYOC (Q424H)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875084	NM_000261.2(MYOC):c.652G>A (p.Glu218Lys)	MYOC (E218K)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875083	NM_000261.2(MYOC):c.801T>C (p.Tyr267=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 875033	NM_000261.2(MYOC):c.1345G>A (p.Val449Ile)	MYOC (V449I)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875032	NM_000261.2(MYOC):c.1408C>T (p.Arg470Cys)	MYOC (R470C)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875031	NM_000261.2(MYOC):c.*73G>C	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GBenign
Select item 874205	NM_000261.2(MYOC):c.369C>T (p.Thr123=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 874204	NM_000261.2(MYOC):c.473G>A (p.Arg158Gln)	MYOC (R158Q)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 874154	NM_000261.2(MYOC):c.864C>T (p.Ile288=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 874097	NM_000261.2(MYOC):c.*273G>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma +1 more	GUncertain significance
Select item 728934	NM_000261.2(MYOC):c.612G>T (p.Thr204=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GBenign FDA Recognized database
Select item 598975	NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp)	SYNE2 (G6542W +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +10 more	GUncertain significance
Select item 598974	NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)	RYR1 (R3366L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +12 more	GConflicting classifications of pathogenicity
Select item 403218	NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)	MYOC (K398R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 374184	NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter)	ZEB1 (R325* +11 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 374025	NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)	CREBBP (R1233K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GLikely pathogenic
Select item 293724	NM_000261.2(MYOC):c.39T>G (p.Pro13=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 293723	NM_000261.2(MYOC):c.114G>A (p.Arg38=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 293722	NM_000261.2(MYOC):c.224A>G (p.Gln75Arg)	MYOC (Q75R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293721	NM_000261.2(MYOC):c.239C>A (p.Thr80Asn)	MYOC (T80N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293720	NM_000261.2(MYOC):c.304T>A (p.Leu102Met)	MYOC (L102M)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293719	NM_000261.2(MYOC):c.335A>G (p.Glu112Gly)	MYOC (E112G)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293718	NM_000261.2(MYOC):c.440G>A (p.Arg147Gln)	MYOC (R147Q)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 293717	NM_000261.2(MYOC):c.477A>G (p.Leu159=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 293716	NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr)	MYOC (D190Y)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293715	NM_000261.2(MYOC):c.648G>A (p.Lys216=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 293714	NM_000261.2(MYOC):c.728C>A (p.Thr243Asn)	MYOC (T243N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293713	NM_000261.2(MYOC):c.865G>A (p.Asp289Asn)	MYOC (D289N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293712	NM_000261.2(MYOC):c.871G>A (p.Val291Ile)	MYOC (V291I)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293711	NM_000261.2(MYOC):c.975G>A (p.Thr325=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 293710	NM_000261.2(MYOC):c.992C>T (p.Ser331Leu)	MYOC (S331L)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293709	NM_000261.2(MYOC):c.1041T>C (p.Tyr347=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 293708	NM_000261.2(MYOC):c.1188G>A (p.Glu396=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GBenign FDA Recognized database
Select item 293707	NM_000261.2(MYOC):c.*71G>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293706	NM_000261.2(MYOC):c.*182C>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293705	NM_000261.2(MYOC):c.*188C>T	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293704	NM_000261.2(MYOC):c.*241A>G	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293703	NM_000261.2(MYOC):c.*331A>G	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma +1 more	GUncertain significance
Select item 293702	NM_000261.2(MYOC):c.*426C>T	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 267877	46;XX;t(X;22)(q13;q13)		Translocation	Severe global developmental delay +7 more	GUncertain significance
Select item 252960	NM_000261.2(MYOC):c.823A>T (p.Lys275Ter)	MYOC (K275*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 196241	NM_000261.2(MYOC):c.855G>T (p.Thr285=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 193066	NM_000261.2(MYOC):c.227G>A (p.Arg76Lys)	MYOC (R76K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 7955	NM_000261.2(MYOC):c.136C>T (p.Arg46Ter)	MYOC (R46*)	Single nucleotide variant (nonsense)	Glaucoma of childhood	GLikely benign FDA Recognized database

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Items: 54