ClinVar for MedGen (Select 1046) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430200	NM_006744.4(RBP4):c.358G>C (p.Asp120His)	RBP4 (D118H +1 more)	Single nucleotide variant (missense variant)	Congenital ocular coloboma	GLikely pathogenic
Select item 1710335	NM_000278.5(PAX2):c.389_390insTGCT (p.Ser131fs)	PAX2 (S131fs +1 more)	Insertion (frameshift variant)	Congenital ocular coloboma	GPathogenic
Select item 1710328	NM_000965.5(RARB):c.1151-1G>C	RARB	Single nucleotide variant (splice acceptor variant)	Congenital ocular coloboma	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 929503	NM_005632.2:c.2904+1_2905-45del	CAPN15	Deletion	imperforated anus +10 more	GLikely pathogenic
Select item 809949	NM_014920.5(CILK1):c.304A>C (p.Ile102Leu)	CILK1 (I102L)	Single nucleotide variant (missense variant +1 more)	Microphthalmia +3 more	GUncertain significance
Select item 809946	NM_014920.5(CILK1):c.1344-4T>A	CILK1	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 694331	NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)	FZD5	Deletion (inframe_deletion)	Congenital ocular coloboma	GLikely pathogenic
Select item 694330	NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)	FZD5	Insertion (inframe_indel)	Congenital ocular coloboma	GLikely pathogenic
Select item 694329	NM_003468.4(FZD5):c.820del (p.Leu274fs)	FZD5 (L274fs)	Deletion (frameshift variant)	Congenital ocular coloboma	GPathogenic
Select item 637955	NM_001378964.1(CDON):c.622C>T (p.Arg208Ter)	CDON (R208*)	Single nucleotide variant (nonsense)	Congenital ocular coloboma	GLikely pathogenic
Select item 633618	NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)	WDR37 (T130I)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome +7 more	GPathogenic/Likely pathogenic
Select item 633617	NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	WDR37 (S119F)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome +6 more	GPathogenic/Likely pathogenic
Select item 633616	NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)	WDR37 (S129C)	Single nucleotide variant (missense variant)	Epilepsy +5 more	GLikely pathogenic
Select item 625873	NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro)	MYH10 (R1502P +3 more)	Single nucleotide variant (missense variant)	Congenital ocular coloboma +6 more	GPathogenic
Select item 440948	NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)	WDR37 (T125I)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +6 more	GPathogenic/Likely pathogenic
Select item 430902	NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn)	RBP4 (Y132N +1 more)	Single nucleotide variant (missense variant)	Unilateral microphthalmos	GLikely pathogenic
Select item 374241	NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln)	CDK5RAP2 (R591Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 279862	NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	PAX6 (R261* +9 more)	Single nucleotide variant (nonsense +1 more)	PAX6-related disorder +9 more	GPathogenic
Select item 217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +23 more	GConflicting classifications of pathogenicity
Select item 189359	NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)	FIBP (Q218* +1 more)	Single nucleotide variant (nonsense)	Tall stature-intellectual disability-renal anomalies syndrome +6 more	GPathogenic/Likely pathogenic
Select item 120326	NM_001130145.3(YAP1):c.370C>T (p.Arg124Ter)	YAP1 (R124*)	Single nucleotide variant (nonsense +1 more)	Congenital ocular coloboma	GPathogenic
Select item 68476	NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)	SLC16A12 (S158P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 68471	NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser)	BFSP1 (C259S +3 more)	Single nucleotide variant (missense variant)	Congenital ocular coloboma	GUncertain significance
Select item 68470	NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)	BFSP1	Deletion (frameshift variant)	Cataract 33	GBenign
Select item 68468	NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)	CYP1B1 (R290fs)	Duplication (frameshift variant)	Anterior segment dysgenesis 6 +5 more	GPathogenic
Select item 68467	NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)	CYP1B1 (E229K)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +4 more	GBenign/Likely benign; other
Select item 7744	NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	CYP1B1 (Y81N)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +5 more	GConflicting classifications of pathogenicity
Select item 7739	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	CYP1B1 (R368H)	Single nucleotide variant (missense variant)	Congenital glaucoma +6 more	GConflicting classifications of pathogenicity
Select item 3474	NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	ELP4, PAX6 (K387* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Irido-corneo-trabecular dysgenesis +8 more	GPathogenic/Likely pathogenic
Select item 1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67 (C615R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +26 more	GPathogenic/Likely pathogenic

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Items: 31