GLB1L[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 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 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 713058	NM_001286423.2(GLB1L):c.1901A>G (p.His634Arg)	GLB1L (H544R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2488308	NM_001286423.2(GLB1L):c.1867A>G (p.Ile623Val)	GLB1L (I623V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362220	NM_001286423.2(GLB1L):c.1831C>G (p.Pro611Ala)	GLB1L (P521A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609525	NM_001286423.2(GLB1L):c.1574A>G (p.Gln525Arg)	GLB1L (Q525R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272011	NM_001286423.2(GLB1L):c.1498G>A (p.Gly500Arg)	GLB1L (G410R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322943	NM_001286423.2(GLB1L):c.1463G>A (p.Ser488Asn)	GLB1L (S488N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622507	NM_001286423.2(GLB1L):c.1367A>G (p.Asn456Ser)	GLB1L (N366S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512600	NM_001286423.2(GLB1L):c.1364G>A (p.Arg455Gln)	GLB1L (R365Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454471	NM_001286423.2(GLB1L):c.1330A>G (p.Met444Val)	GLB1L (M354V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224072	NM_001286423.2(GLB1L):c.1178G>A (p.Arg393His)	GLB1L (R303H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2402215	NM_001286423.2(GLB1L):c.1003A>G (p.Ile335Val)	GLB1L (I245V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262618	NM_001286423.2(GLB1L):c.876G>A (p.Met292Ile)	GLB1L (M292I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517888	NM_001286423.2(GLB1L):c.862G>C (p.Gly288Arg)	GLB1L (G198R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275008	NM_001286423.2(GLB1L):c.755G>A (p.Arg252Gln)	GLB1L (R162Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365247	NM_001286423.2(GLB1L):c.754C>T (p.Arg252Trp)	GLB1L (R252W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771132	NM_001286423.2(GLB1L):c.722-8T>A	GLB1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2544494	NM_001286423.2(GLB1L):c.643C>T (p.Leu215Phe)	GLB1L (L215F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535541	NM_001286423.2(GLB1L):c.442T>G (p.Ser148Ala)	GLB1L (S148A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234195	NM_001286423.2(GLB1L):c.395G>T (p.Gly132Val)	GLB1L (G132V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515176	NM_001286423.2(GLB1L):c.298C>T (p.Arg100Trp)	GLB1L (R100W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313319	NM_001286423.2(GLB1L):c.214T>C (p.Trp72Arg)	GLB1L (W72R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359694	NM_001286423.2(GLB1L):c.181G>A (p.Val61Met)	GLB1L (V61M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235584	NM_001286423.2(GLB1L):c.149C>T (p.Ser50Phe)	GLB1L (S50F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224775	NM_001286423.2(GLB1L):c.124G>C (p.Asp42His)	GLB1L (D42H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204182	NM_001286423.2(GLB1L):c.86C>T (p.Ser29Leu)	GLB1L (S29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338091	NM_001286423.2(GLB1L):c.35T>G (p.Leu12Arg)	GLB1L (L12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	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 2426435	NC_000002.11:g.(?_220101115)_(220102134_?)del	ANKZF1, GLB1L	Deletion	not provided	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 1449942	NC_000002.11:g.(?_220101116)_(220102135_?)del	ANKZF1, GLB1L	Deletion	not provided	GUncertain significance
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	DES, DNAJB2 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
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 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 686962	GRCh37/hg19 2q35(chr2:219879593-220346596)x3	ABCB6, ANKZF1 +17 more	Copy number gain	not provided	GUncertain significance
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	PTPRN, RESP18 +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 549857	Single allele	ATG9A, DNPEP +23 more	Deletion	Heart, malformation of +3 more	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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +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

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Items: 60