ClinVar for MedGen (Select 815130) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2995995	NM_005210.4(CRYGB):c.179G>A (p.Arg60His)	CRYGB, LOC100507443 (R60H)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GLikely benign
Select item 2914911	NM_005210.4(CRYGB):c.83C>G (p.Pro28Arg)	CRYGB, LOC100507443 (P28R)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 2906200	NM_005210.4(CRYGB):c.302G>T (p.Gly101Val)	CRYGB, LOC100507443 (G101V)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 2730356	NM_005210.4(CRYGB):c.220G>A (p.Asp74Asn)	CRYGB, LOC100507443 (D74N)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 2726889	NM_005210.4(CRYGB):c.21C>T (p.Tyr7=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 39 multiple types	GLikely benign
Select item 1589746	NM_005210.4(CRYGB):c.9+11_9+13delinsAAA	CRYGB, LOC100507443	Indel (intron variant)	Cataract 39 multiple types	GLikely benign
Select item 1507890	NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys)	CRYGB, LOC100507443 (R143K)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 1413387	NM_005210.4(CRYGB):c.251C>T (p.Pro84Leu)	CRYGB, LOC100507443 (P84L)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 1370446	NM_005210.4(CRYGB):c.478G>C (p.Ala160Pro)	CRYGB, LOC100507443 (A160P)	Single nucleotide variant (missense variant)	Cataract 39 multiple types +1 more	GUncertain significance
Select item 1170763	NC_000002.12:g.208146167G>A	CRYGB, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign
Select item 800166	NM_005210.4(CRYGB):c.137A>G (p.Tyr46Cys)	CRYGB, LOC100507443 (Y46C)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GLikely benign
Select item 723781	NM_005210.4(CRYGB):c.513C>T (p.Val171=)	LOC100507443, CRYGB	Single nucleotide variant (synonymous variant)	Cataract 39 multiple types	GBenign
Select item 677166	NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu)	LOC100507443, CRYGB (I111L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 677165	NM_005210.4(CRYGB):c.192T>C (p.Pro64=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 572782	NM_005210.4(CRYGB):c.44G>A (p.Arg15His)	CRYGB, LOC100507443 (R15H)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 474172	NM_005210.4(CRYGB):c.312A>G (p.Ser104=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 39 multiple types	GBenign
Select item 474171	NM_005210.4(CRYGB):c.244A>G (p.Ile82Val)	CRYGB, LOC100507443 (I82V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 474170	NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp)	CRYGB, LOC100507443 (R59W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 41988	NM_005210.4(CRYGB):c.10-38del	LOC100507443, CRYGB	Deletion (intron variant)	not provided +1 more	GBenign
Select item 41987	NM_005210.4(CRYGB):c.72del (p.Asn25fs)	CRYGB, LOC100507443 (N25fs)	Deletion (frameshift variant)	Cataract 39 multiple types	GPathogenic

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Links from MedGen

Items: 20