ClinVar for Gene (Select 1418) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3077896	NM_014617.4(CRYGA):c.459G>T (p.Arg153Ser)	CRYGA (R153S)	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 3077894	NM_014617.4(CRYGA):c.401A>G (p.Tyr134Cys)	CRYGA (Y134C)	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 3077892	NM_014617.4(CRYGA):c.257G>A (p.Ser86Asn)	CRYGA (S86N)	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 3052037	NM_014617.4(CRYGA):c.389G>A (p.Cys130Tyr)	CRYGA (C130Y)	Single nucleotide variant (missense variant)	CRYGA-related disorder	GLikely benign
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 3038636	NM_014617.4(CRYGA):c.357T>A (p.Pro119=)	CRYGA	Single nucleotide variant (synonymous variant)	CRYGA-related disorder	GBenign
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 3025266	NM_014617.4(CRYGA):c.142C>T (p.Arg48Cys)	CRYGA (R48C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2577528	NM_014617.4(CRYGA):c.471G>T (p.Trp157Cys)	CRYGA (W157C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
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 2481856	NM_014617.4(CRYGA):c.514G>A (p.Asp172Asn)	CRYGA (D172N)	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 2456803	NM_014617.4(CRYGA):c.70C>T (p.Pro24Ser)	CRYGA (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426035	NC_000002.11:g.(?_208986397)_(209220029_?)del	C2orf80, CRYGA +5 more	Deletion	not provided	GPathogenic
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 2378890	NM_014617.4(CRYGA):c.328G>A (p.Ala110Thr)	CRYGA (A110T)	Single nucleotide variant (missense variant)	not specified	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 2369755	NM_014617.4(CRYGA):c.419G>T (p.Arg140Leu)	CRYGA (R140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2276421	NM_014617.4(CRYGA):c.401A>T (p.Tyr134Phe)	CRYGA (Y134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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	CREB1, CRYGA +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 709075	NM_014617.4(CRYGA):c.295C>T (p.Arg99Ter)	CRYGA (R99*)	Single nucleotide variant (nonsense)	not provided +1 more	GBenign/Likely benign
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
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 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 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 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 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	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 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58