"GeneDx"[submitter] AND "LOC100507443"[gene] - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 260059	NM_006891.4(CRYGD):c.*12T>C	CRYGD, LOC100507443	Single nucleotide variant (3 prime UTR variant)	Cataract 4 multiple types +2 more	GBenign
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 1302993	NM_006891.4(CRYGD):c.386G>A (p.Gly129Asp)	CRYGD, LOC100507443 (G129D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1270286	NM_006891.4(CRYGD):c.253-169G>T	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270956	NM_006891.4(CRYGD):c.253-170T>C	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266956	NM_006891.4(CRYGD):c.253-266T>C	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276600	NM_006891.4(CRYGD):c.252+317G>A	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443411	NM_006891.4(CRYGD):c.193G>A (p.Asp65Asn)	LOC100507443, CRYGD (D65N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 449631	NM_006891.4(CRYGD):c.118A>T (p.Ser40Cys)	CRYGD, LOC100507443 (S40C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580739	NM_006891.4(CRYGD):c.110G>C (p.Arg37Pro)	CRYGD, LOC100507443 (R37P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1300288	NM_006891.4(CRYGD):c.51T>G (p.Tyr17Ter)	CRYGD, LOC100507443 (Y17*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 16937	NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys)	CRYGD, LOC100507443 (R15C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 1242389	NM_006891.4(CRYGD):c.-44_-23del	CRYGD, LOC100507443	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1280606	NC_000002.12:g.208124828T>C	CRYGD, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 1289102	NC_000002.12:g.208124857G>A	CRYGD, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 1197205	NC_000002.12:g.208124868A>G	CRYGD, LOC100507443	Single nucleotide variant	not provided	GLikely benign
Select item 1214795	NC_000002.12:g.208127913A>G	CRYGC, LOC100507443	Single nucleotide variant	not provided	GLikely benign
Select item 1283810	NC_000002.12:g.208128047G>A	CRYGC, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 66074	NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter)	CRYGC, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 620195	NM_020989.4(CRYGC):c.432C>G (p.Tyr144Ter)	CRYGC, LOC100507443 (Y144*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 429726	NM_020989.4(CRYGC):c.427C>T (p.Gln143Ter)	CRYGC, LOC100507443 (Q143*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1321018	NM_020989.4(CRYGC):c.424del (p.Arg142fs)	CRYGC, LOC100507443 (R142fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1200414	NM_020989.4(CRYGC):c.424C>G (p.Arg142Gly)	LOC100507443, CRYGC (R142G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 465774	NM_020989.4(CRYGC):c.357C>T (p.Ser119=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract +1 more	GBenign/Likely benign
Select item 701962	NM_020989.4(CRYGC):c.317G>A (p.Ser106Asn)	CRYGC, LOC100507443 (S106N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1214064	NM_020989.4(CRYGC):c.253-92A>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245503	NM_020989.4(CRYGC):c.252+335T>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219675	NM_020989.4(CRYGC):c.252+217A>G	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206925	NM_020989.4(CRYGC):c.252+191C>T	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219438	NM_020989.4(CRYGC):c.252+135T>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262083	NM_020989.4(CRYGC):c.252+120A>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402565	NM_020989.4(CRYGC):c.143G>A (p.Arg48His)	CRYGC, LOC100507443 (R48H)	Single nucleotide variant (missense variant)	Usher syndrome type 2C +3 more	GBenign
Select item 2578291	NM_020989.4(CRYGC):c.10-1G>A	CRYGC, LOC100507443	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1291617	NC_000002.12:g.208129973C>T	CRYGC, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1281316	NC_000002.12:g.208130125T>C	CRYGC, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided	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 1183509	NM_005210.4(CRYGB):c.253-149T>C	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282277	NM_005210.4(CRYGB):c.253-156T>C	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224569	NM_005210.4(CRYGB):c.252+268A>G	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237178	NM_005210.4(CRYGB):c.252+229A>G	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263173	NM_005210.4(CRYGB):c.252+63dup	CRYGB, LOC100507443	Duplication (intron variant)	not provided	GBenign
Select item 1317988	NM_005210.4(CRYGB):c.252+84_252+85del	CRYGB, LOC100507443	Deletion (intron variant)	not provided	GLikely benign
Select item 1257871	NM_005210.4(CRYGB):c.252+85del	CRYGB, LOC100507443	Deletion (intron variant)	not provided	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 41988	NM_005210.4(CRYGB):c.10-38del	LOC100507443, CRYGB	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1245788	NM_005210.4(CRYGB):c.9+13T>A	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229744	NM_005210.4(CRYGB):c.9+12G>A	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249995	NM_005210.4(CRYGB):c.9+11G>A	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286851	NM_005210.4(CRYGB):c.-28C>A	CRYGB, LOC100507443	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 1283350	NC_000002.12:g.208146290G>T	CRYGB, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1228871	NC_000002.12:g.208146403T>C	CRYGB, LOC100507443	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61