ClinVar for Gene (Select 1412) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358691	NM_057093.2(CRYBA2):c.319C>T (p.Arg107Cys)	CRYBA2 (R107C)	Single nucleotide variant (missense variant)	CRYBA2-related disorder	GUncertain significance
Select item 3356867	NM_057093.2(CRYBA2):c.532G>A (p.Gly178Ser)	CRYBA2 (G178S)	Single nucleotide variant (missense variant)	CRYBA2-related disorder	GUncertain significance
Select item 3346634	NM_057093.2(CRYBA2):c.81T>A (p.Cys27Ter)	CRYBA2 (C27*)	Single nucleotide variant (nonsense)	CRYBA2-related disorder	GUncertain significance
Select item 3269653	NM_057093.2(CRYBA2):c.73C>A (p.Arg25Ser)	CRYBA2 (R25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269652	NM_057093.2(CRYBA2):c.361T>A (p.Phe121Ile)	CRYBA2 (F121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247494	NC_000002.11:g.(?_219646906)_(219942948_?)dup	CDK5R2, CFAP65 +9 more	Duplication	not provided	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3077706	NM_057093.2(CRYBA2):c.287G>A (p.Arg96Gln)	CRYBA2 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077705	NM_057093.2(CRYBA2):c.243G>T (p.Trp81Cys)	CRYBA2 (W81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058152	NM_057093.2(CRYBA2):c.506G>A (p.Arg169Gln)	CRYBA2 (R169Q)	Single nucleotide variant (missense variant)	CRYBA2-related disorder	GBenign
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2634381	NM_057093.2(CRYBA2):c.320G>A (p.Arg107His)	CRYBA2 (R107H)	Single nucleotide variant (missense variant)	CRYBA2-related disorder	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 2515408	NM_057093.2(CRYBA2):c.571T>C (p.Ser191Pro)	CRYBA2 (S191P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510735	NM_057093.2(CRYBA2):c.541G>A (p.Gly181Ser)	CRYBA2 (G181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476502	NM_057093.2(CRYBA2):c.197A>G (p.Gln66Arg)	CRYBA2 (Q66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454415	NM_057093.2(CRYBA2):c.238G>A (p.Ala80Thr)	CRYBA2 (A80T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2233035	NM_057093.2(CRYBA2):c.464A>G (p.Tyr155Cys)	CRYBA2 (Y155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	MIR375, NHEJ1 +50 more	Duplication	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1318253	NM_057093.2(CRYBA2):c.-52G>C	CRYBA2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1316549	NM_057093.2(CRYBA2):c.-223C>T	CRYBA2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1288772	NM_057093.2(CRYBA2):c.304-16T>C	CRYBA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284041	NC_000002.12:g.218989946G>C	CRYBA2	Single nucleotide variant	not provided	GBenign
Select item 1258264	NM_057093.2(CRYBA2):c.303+127A>G	CRYBA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1050665	NM_057093.2(CRYBA2):c.286C>T (p.Arg96Trp)	CRYBA2 (R96W)	Single nucleotide variant (missense variant)	not specified	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 980008	GRCh37/hg19 2q35(chr2:219797684-220088582)x3	CRYBA2, SLC23A3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
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 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 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 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 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 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	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

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Links from Gene

Items: 50