CRYGA[gene] - ClinVar

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

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
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 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	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 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 147983	GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1	C2orf80, CRYGA +17 more	Copy number loss	See cases	GUncertain significance
Select item 2481856	NM_014617.4(CRYGA):c.514G>A (p.Asp172Asn)	CRYGA (D172N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077897	NM_014617.4(CRYGA):c.506G>A (p.Arg169Gln)	CRYGA (R169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476610	NM_014617.4(CRYGA):c.481G>A (p.Asp161Asn)	CRYGA (D161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577528	NM_014617.4(CRYGA):c.471G>T (p.Trp157Cys)	CRYGA (W157C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3077896	NM_014617.4(CRYGA):c.459G>T (p.Arg153Ser)	CRYGA (R153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269703	NM_014617.4(CRYGA):c.445G>A (p.Gly149Arg)	CRYGA (G149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269707	NM_014617.4(CRYGA):c.425G>A (p.Arg142Gln)	CRYGA (R142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077895	NM_014617.4(CRYGA):c.419G>A (p.Arg140Gln)	CRYGA (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369755	NM_014617.4(CRYGA):c.419G>T (p.Arg140Leu)	CRYGA (R140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077894	NM_014617.4(CRYGA):c.401A>G (p.Tyr134Cys)	CRYGA (Y134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276421	NM_014617.4(CRYGA):c.401A>T (p.Tyr134Phe)	CRYGA (Y134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052037	NM_014617.4(CRYGA):c.389G>A (p.Cys130Tyr)	CRYGA (C130Y)	Single nucleotide variant (missense variant)	CRYGA-related disorder	GLikely benign
Select item 2212457	NM_014617.4(CRYGA):c.382G>C (p.Glu128Gln)	CRYGA (E128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038636	NM_014617.4(CRYGA):c.357T>A (p.Pro119=)	CRYGA	Single nucleotide variant (synonymous variant)	CRYGA-related disorder	GBenign
Select item 2378890	NM_014617.4(CRYGA):c.328G>A (p.Ala110Thr)	CRYGA (A110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077893	NM_014617.4(CRYGA):c.313C>G (p.Leu105Val)	CRYGA (L105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269705	NM_014617.4(CRYGA):c.296G>A (p.Arg99Gln)	CRYGA (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709075	NM_014617.4(CRYGA):c.295C>T (p.Arg99Ter)	CRYGA (R99*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 3077892	NM_014617.4(CRYGA):c.257G>A (p.Ser86Asn)	CRYGA (S86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252950	NM_014617.4(CRYGA):c.239G>A (p.Arg80His)	CRYGA (R80H)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely benign
Select item 2562193	NM_014617.4(CRYGA):c.230A>G (p.Gln77Arg)	CRYGA (Q77R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323080	NM_014617.4(CRYGA):c.186G>C (p.Lys62Asn)	CRYGA (K62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039699	NM_014617.4(CRYGA):c.172C>T (p.Leu58=)	CRYGA	Single nucleotide variant (synonymous variant)	CRYGA-related disorder	GLikely benign
Select item 3269706	NM_014617.4(CRYGA):c.143G>A (p.Arg48His)	CRYGA (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025266	NM_014617.4(CRYGA):c.142C>T (p.Arg48Cys)	CRYGA (R48C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2371852	NM_014617.4(CRYGA):c.120C>A (p.Ser40Arg)	CRYGA (S40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456803	NM_014617.4(CRYGA):c.70C>T (p.Pro24Ser)	CRYGA (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037626	NM_014617.4(CRYGA):c.53A>T (p.Asn18Ile)	CRYGA (N18I)	Single nucleotide variant (missense variant)	CRYGA-related disorder	GBenign
Select item 2400391	NM_014617.4(CRYGA):c.44G>A (p.Arg15His)	CRYGA (R15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062601	GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2426035	NC_000002.11:g.(?_208986397)_(209220029_?)del	C2orf80, CRYGA +5 more	Deletion	not provided	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526945	GRCh37/hg19 2q33.3-34(chr2:208801409-209164383)	C2orf80, CRYGA +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814360	GRCh37/hg19 2q33.3-34(chr2:208965516-209396109)x3	C2orf80, CRYGA +6 more	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 686958	GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not provided	GUncertain significance
Select item 686367	GRCh37/hg19 2q33.3-34(chr2:208956981-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not provided	GUncertain significance
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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: 62