ClinVar for MedGen (Select 348463) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3008284	NM_006891.4(CRYGD):c.419G>A (p.Arg140Gln)	LOC100507443, CRYGD (R140Q)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 2851051	NM_006891.4(CRYGD):c.401A>G (p.Tyr134Cys)	CRYGD, LOC100507443 (Y134C)	Single nucleotide variant (missense variant)	Aculeiform cataract	GLikely benign
Select item 2772746	NM_006891.4(CRYGD):c.9+17C>T	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Aculeiform cataract	GBenign
Select item 2772706	NM_006891.4(CRYGD):c.161_163del (p.Leu54del)	CRYGD, LOC100507443 (L54del)	Deletion (inframe_deletion)	Aculeiform cataract	GLikely pathogenic
Select item 1994732	NM_006891.4(CRYGD):c.154T>C (p.Ser52Pro)	CRYGD, LOC100507443 (S52P)	Single nucleotide variant (missense variant)	Aculeiform cataract	GLikely pathogenic
Select item 1621822	NM_006891.4(CRYGD):c.334C>G (p.Leu112Val)	CRYGD, LOC100507443 (L112V)	Single nucleotide variant (missense variant)	Aculeiform cataract	GLikely benign
Select item 1511929	NM_006891.4(CRYGD):c.471G>A (p.Trp157Ter)	CRYGD, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	Aculeiform cataract +1 more	GLikely pathogenic
Select item 1422350	NM_006891.4(CRYGD):c.86A>G (p.Tyr29Cys)	CRYGD, LOC100507443 (Y29C)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 1364753	NM_006891.4(CRYGD):c.356A>G (p.Asn119Ser)	CRYGD, LOC100507443 (N119S)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 1358725	NM_006891.4(CRYGD):c.97T>C (p.Cys33Arg)	CRYGD, LOC100507443 (C33R)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 1261000	NM_006891.4(CRYGD):c.9+20C>G	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Aculeiform cataract +1 more	GBenign
Select item 1147525	NM_006891.4(CRYGD):c.240C>T (p.Arg80=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1047454	NM_006891.4(CRYGD):c.344G>A (p.Arg115His)	CRYGD, LOC100507443 (R115H)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 842753	NM_006891.4(CRYGD):c.44G>A (p.Arg15His)	CRYGD, LOC100507443 (R15H)	Single nucleotide variant (missense variant)	Aculeiform cataract	GBenign
Select item 657292	NM_006891.4(CRYGD):c.252C>G (p.His84Gln)	CRYGD, LOC100507443 (H84Q)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 623428	NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys)	CRYGD, LOC100507443 (G61C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 574299	NM_006891.4(CRYGD):c.475del (p.Ala159fs)	CRYGD, LOC100507443 (A159fs)	Deletion (frameshift variant)	Aculeiform cataract	GLikely pathogenic
Select item 574060	NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter)	LOC100507443, CRYGD (R140*)	Single nucleotide variant (nonsense)	Aculeiform cataract +2 more	GPathogenic
Select item 536129	NM_006891.4(CRYGD):c.155C>G (p.Ser52Trp)	LOC100507443, CRYGD (S52W)	Single nucleotide variant (missense variant)	Aculeiform cataract +2 more	GUncertain significance
Select item 536128	NM_006891.4(CRYGD):c.400_410del (p.Tyr134fs)	CRYGD, LOC100507443 (Y134fs)	Deletion (frameshift variant)	Aculeiform cataract	GUncertain significance
Select item 468229	NM_006891.4(CRYGD):c.63C>T (p.Ser21=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types +2 more	GBenign/Likely benign
Select item 468228	NM_006891.4(CRYGD):c.22_26delinsCCTTGCAGATCAC (p.Glu8fs)	CRYGD, LOC100507443 (E8fs)	Indel (frameshift variant)	Aculeiform cataract	GUncertain significance
Select item 333876	NM_006891.4(CRYGD):c.10-7C>G	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Aculeiform cataract +1 more	GBenign
Select item 333875	NM_006891.4(CRYGD):c.130A>G (p.Met44Val)	LOC100507443, CRYGD (M44V)	Single nucleotide variant (missense variant)	Cataract 4 multiple types +2 more	GBenign
Select item 333874	NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)	CRYGD, LOC100507443 (Y56*)	Single nucleotide variant (nonsense)	Aculeiform cataract +3 more	GConflicting classifications of pathogenicity
Select item 333872	NM_006891.4(CRYGD):c.252+10T>A	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 333871	NM_006891.4(CRYGD):c.264C>G (p.His88Gln)	LOC100507443, CRYGD (H88Q)	Single nucleotide variant (missense variant)	Cataract 4 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 333869	NM_006891.4(CRYGD):c.376G>A (p.Val126Met)	CRYGD, LOC100507443 (V126M)	Single nucleotide variant (missense variant)	Aculeiform cataract +2 more	GBenign
Select item 333868	NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser)	CRYGD, LOC100507443 (N161S)	Single nucleotide variant (missense variant)	CRYGD-related disorder +2 more	GUncertain significance
Select item 333867	NM_006891.4(CRYGD):c.499C>T (p.Leu167=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types +1 more	GBenign
Select item 260063	NM_006891.4(CRYGD):c.9+20C>T	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Aculeiform cataract +2 more	GBenign
Select item 260062	NM_006891.4(CRYGD):c.51T>C (p.Tyr17=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 260061	NM_006891.4(CRYGD):c.285A>G (p.Arg95=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types +3 more	GBenign
Select item 68462	NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter)	LOC100507443, CRYGD (Y134*)	Single nucleotide variant (nonsense)	Aculeiform cataract	GUncertain significance
Select item 16940	NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)	CRYGD, LOC100507443 (P24T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 16938	NM_006891.4(CRYGD):c.176G>A (p.Arg59His)	CRYGD, LOC100507443 (R59H)	Single nucleotide variant (missense variant)	Aculeiform cataract	GPathogenic
Select item 16937	NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys)	CRYGD, LOC100507443 (R15C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 37