CRYGS[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 148198	GRCh38/hg38 3q27.2-27.3(chr3:186009008-186554890)x1	CRYGS, DGKG +24 more	Copy number loss	See cases	GUncertain significance
Select item 1191812	NC_000003.12:g.186538434_186538435del	CRYGS	Deletion	not provided	GLikely benign
Select item 2467715	NM_017541.4(CRYGS):c.521G>A (p.Arg174His)	CRYGS (R174H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077914	NM_017541.4(CRYGS):c.520C>T (p.Arg174Cys)	CRYGS (R174C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2887086	NM_017541.4(CRYGS):c.502C>T (p.Pro168Ser)	CRYGS (P168S)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 2772725	NM_017541.4(CRYGS):c.450C>A (p.Tyr150Ter)	CRYGS (Y150*)	Single nucleotide variant (nonsense)	Cataract 20 multiple types	GUncertain significance
Select item 2440576	NM_017541.4(CRYGS):c.436C>T (p.Arg146Cys)	CRYGS (R146C)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1806343	NM_017541.4(CRYGS):c.421G>T (p.Glu141Ter)	CRYGS (E141*)	Single nucleotide variant (nonsense)	Cataract 20 multiple types	GUncertain significance
Select item 3077913	NM_017541.4(CRYGS):c.386C>T (p.Ser129Phe)	CRYGS (S129F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629550	NM_017541.4(CRYGS):c.374G>A (p.Arg125Gln)	CRYGS (R125Q)	Single nucleotide variant (missense variant)	CRYGS-related disorder	GUncertain significance
Select item 2515103	NM_017541.4(CRYGS):c.355A>C (p.Met119Leu)	CRYGS (M119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534943	NM_017541.4(CRYGS):c.352A>G (p.Ile118Val)	CRYGS (I118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035657	NM_017541.4(CRYGS):c.336C>T (p.Thr112=)	CRYGS	Single nucleotide variant (synonymous variant)	CRYGS-related disorder	GLikely benign
Select item 1207340	NM_017541.4(CRYGS):c.306G>A (p.Gly102=)	CRYGS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2498946	NM_017541.4(CRYGS):c.305G>A (p.Gly102Glu)	CRYGS (G102E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 851976	NM_017541.4(CRYGS):c.299A>C (p.Glu100Ala)	CRYGS (E100A)	Single nucleotide variant (missense variant)	Cataract 20 multiple types +1 more	GUncertain significance
Select item 1169999	NM_017541.4(CRYGS):c.294C>A (p.Ile98=)	CRYGS	Single nucleotide variant (synonymous variant)	Cataract 20 multiple types	GBenign
Select item 1492005	NM_017541.4(CRYGS):c.269G>C (p.Ser90Thr)	CRYGS (S90T)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1574568	NM_017541.4(CRYGS):c.265-12G>A	CRYGS	Single nucleotide variant (intron variant)	Cataract 20 multiple types	GLikely benign
Select item 1275580	NM_017541.4(CRYGS):c.265-123G>A	CRYGS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207175	NM_017541.4(CRYGS):c.264+183G>A	CRYGS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199084	NM_017541.4(CRYGS):c.264+104G>A	CRYGS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 461820	NM_017541.4(CRYGS):c.253G>A (p.Ala85Thr)	CRYGS (A85T)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1013944	NM_017541.4(CRYGS):c.248G>A (p.Cys83Tyr)	CRYGS (C83Y)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1009187	NM_017541.4(CRYGS):c.247T>C (p.Cys83Arg)	CRYGS (C83R)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1400078	NM_017541.4(CRYGS):c.236G>A (p.Arg79His)	CRYGS (R79H)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 3354286	NM_017541.4(CRYGS):c.232G>A (p.Asp78Asn)	CRYGS (D78N)	Single nucleotide variant (missense variant)	CRYGS-related disorder	GUncertain significance
Select item 1358112	NM_017541.4(CRYGS):c.224G>A (p.Gly75Asp)	CRYGS (G75D)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1415793	NM_017541.4(CRYGS):c.215G>A (p.Arg72His)	CRYGS (R72H)	Single nucleotide variant (missense variant)	Cataract 20 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 2318953	NM_017541.4(CRYGS):c.214C>T (p.Arg72Cys)	CRYGS (R72C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555571	NM_017541.4(CRYGS):c.203C>T (p.Pro68Leu)	CRYGS (P68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026525	NM_017541.4(CRYGS):c.199T>A (p.Tyr67Asn)	CRYGS (Y67N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2810466	NM_017541.4(CRYGS):c.139T>C (p.Trp47Arg)	CRYGS (W47R)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 3355303	NM_017541.4(CRYGS):c.134G>A (p.Gly45Asp)	CRYGS (G45D)	Single nucleotide variant (missense variant)	CRYGS-related disorder	GUncertain significance
Select item 617601	NM_017541.4(CRYGS):c.124G>A (p.Val42Met)	CRYGS (V42M)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GPathogenic
Select item 617600	NM_017541.4(CRYGS):c.116C>G (p.Ser39Cys)	CRYGS (S39C)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GPathogenic
Select item 2197267	NM_017541.4(CRYGS):c.107G>A (p.Arg36His)	CRYGS (R36H)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1169654	NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly)	CRYGS (D26G)	Single nucleotide variant (missense variant)	Cataract 20 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1485465	NM_017541.4(CRYGS):c.62A>G (p.Tyr21Cys)	CRYGS (Y21C)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 2514706	NM_017541.4(CRYGS):c.55C>T (p.Arg19Cys)	CRYGS (R19C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2734603	NM_017541.4(CRYGS):c.53G>A (p.Gly18Asp)	CRYGS (G18D)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GPathogenic
Select item 16936	NM_017541.4(CRYGS):c.53G>T (p.Gly18Val)	CRYGS (G18V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 702786	NM_017541.4(CRYGS):c.39C>A (p.Asp13Glu)	CRYGS (D13E)	Single nucleotide variant (missense variant)	Cataract 20 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 1446817	NM_017541.4(CRYGS):c.32A>G (p.Tyr11Cys)	CRYGS (Y11C)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 252949	NM_017541.4(CRYGS):c.30_31delinsAA (p.Phe10_Tyr11delinsLeuAsn)	CRYGS	Indel (missense variant)	Developmental cataract	GPathogenic
Select item 530955	NM_017541.4(CRYGS):c.24T>A (p.Ile8=)	CRYGS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1098390	NM_017541.4(CRYGS):c.23T>A (p.Ile8Asn)	CRYGS (I8N)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1273613	NM_017541.4(CRYGS):c.22-297C>G	CRYGS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260611	NM_017541.4(CRYGS):c.21+54C>A	CRYGS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214180	NM_017541.4(CRYGS):c.21+32G>A	CRYGS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997085	NM_017541.4(CRYGS):c.21+6T>C	CRYGS	Single nucleotide variant (intron variant)	Cataract 20 multiple types	GUncertain significance
Select item 1287545	NC_000003.12:g.186544708G>A	CRYGS	Single nucleotide variant	not provided	GBenign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2426290	NC_000003.11:g.(?_186256485)_(187009420_?)dup	ADIPOQ, AHSG +14 more	Duplication	3MC syndrome 1	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527065	GRCh37/hg19 3q27.3(chr3:186149060-186599706)	ADIPOQ, AHSG +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1340541	GRCh37/hg19 3q27.3(chr3:186056143-186306541)x3	CRYGS, DGKG +2 more	Copy number gain	not provided	GUncertain significance
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980557	GRCh37/hg19 3q27.3(chr3:186048846-186298472)x3	DGKG, CRYGS +2 more	Copy number gain	not provided	GUncertain significance
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 832891	NC_000003.11:g.(?_186256465)_(187009440_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 814507	GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1	ST6GAL1, DNAJB11 +19 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 531899	NC_000003.11:g.(?_186256465)_(186980528_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394816	GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1	ADIPOQ, AHSG +14 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3359335	NM_017541.4(CRYGS):c.500C>G (p.Ser167Cys)	CRYGS (S167C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 95