GLB1L2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	LOC130007100, LOC130007101 +145 more	Copy number loss	See cases	GPathogenic
Select item 58950	GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1	ACAD8, ADAMTS15 +123 more	Copy number loss	See cases	GPathogenic
Select item 154559	GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1	ACAD8, B3GAT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 148509	GRCh38/hg38 11q25(chr11:131212028-135075271)x1	ACAD8, B3GAT1 +88 more	Copy number loss	See cases	GPathogenic
Select item 58951	GRCh38/hg38 11q25(chr11:131587470-134609295)x1	ACAD8, B3GAT1 +75 more	Copy number loss	See cases	GPathogenic
Select item 155588	GRCh38/hg38 11q25(chr11:132588975-135068576)x1	ACAD8, B3GAT1 +65 more	Copy number loss	See cases	GUncertain significance
Select item 144517	GRCh38/hg38 11q25(chr11:132936725-134998513)x1	LOC130007119, LOC130007120 +62 more	Copy number loss	See cases	GPathogenic
Select item 155223	GRCh38/hg38 11q25(chr11:133169303-135068576)x1	ACAD8, B3GAT1 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 57259	GRCh38/hg38 11q25(chr11:134232099-134998513)x1	ACAD8, B3GAT1 +25 more	Copy number loss	See cases	GPathogenic
Select item 151267	GRCh38/hg38 11q25(chr11:134287463-134358144)x3	GLB1L2, GLB1L3 +2 more	Copy number gain	See cases	GBenign
Select item 145003	GRCh38/hg38 11q25(chr11:134287463-134337921)x1	GLB1L2, GLB1L3 +1 more	Copy number loss	See cases	GBenign
Select item 145001	GRCh38/hg38 11q25(chr11:134287463-134337921)x3	GLB1L2, GLB1L3 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 3100072	NM_001370461.1(GLB1L2):c.22C>T (p.Arg8Trp)	GLB1L2, LOC130007128 (R8W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717007	NM_001370461.1(GLB1L2):c.37A>G (p.Thr13Ala)	GLB1L2, LOC130007128 (T13A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3100076	NM_001370461.1(GLB1L2):c.50T>A (p.Leu17Gln)	GLB1L2, LOC130007128 (L17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490559	NM_001370461.1(GLB1L2):c.115C>T (p.Arg39Trp)	GLB1L2 (R39W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487507	NM_001370461.1(GLB1L2):c.127C>G (p.Arg43Gly)	GLB1L2 (R43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204405	NM_001370461.1(GLB1L2):c.151G>T (p.Gly51Cys)	GLB1L2 (G51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100068	NM_001370461.1(GLB1L2):c.176C>G (p.Ser59Cys)	GLB1L2 (S59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204406	NM_001370461.1(GLB1L2):c.186G>C (p.Trp62Cys)	GLB1L2 (W62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367840	NM_001370461.1(GLB1L2):c.259G>A (p.Ala87Thr)	GLB1L2 (A87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296375	NM_001370461.1(GLB1L2):c.274A>T (p.Thr92Ser)	GLB1L2 (T92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100073	NM_001370461.1(GLB1L2):c.306T>A (p.His102Gln)	GLB1L2 (H102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286988	NM_001370461.1(GLB1L2):c.388T>C (p.Trp130Arg)	GLB1L2 (W130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100074	NM_001370461.1(GLB1L2):c.433C>T (p.Leu145Phe)	GLB1L2 (L145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100075	NM_001370461.1(GLB1L2):c.436G>A (p.Gly146Arg)	GLB1L2 (G146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401387	NM_001370461.1(GLB1L2):c.440G>A (p.Gly147Asp)	GLB1L2 (G147D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100077	NM_001370461.1(GLB1L2):c.566G>T (p.Arg189Leu)	GLB1L2 (R189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247016	NM_001370461.1(GLB1L2):c.582T>G (p.Ile194Met)	GLB1L2 (I194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281510	NM_001370461.1(GLB1L2):c.586G>A (p.Val196Met)	GLB1L2 (V196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100078	NM_001370461.1(GLB1L2):c.596A>C (p.Glu199Ala)	GLB1L2 (E199A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332340	NM_001370461.1(GLB1L2):c.636G>T (p.Met212Ile)	GLB1L2 (M212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332342	NM_001370461.1(GLB1L2):c.637C>T (p.Pro213Ser)	GLB1L2 (P213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301791	NM_001370461.1(GLB1L2):c.655C>A (p.Leu219Met)	GLB1L2 (L219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257373	NM_001370461.1(GLB1L2):c.698A>G (p.Asn233Ser)	GLB1L2 (N233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213875	NM_001370461.1(GLB1L2):c.724G>T (p.Val242Phe)	GLB1L2 (V242F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263679	NM_001370461.1(GLB1L2):c.738G>C (p.Leu246Phe)	GLB1L2 (L246F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296861	NM_001370461.1(GLB1L2):c.740C>T (p.Ala247Val)	GLB1L2 (A301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100080	NM_001370461.1(GLB1L2):c.750C>G (p.Asn250Lys)	GLB1L2 (N250K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100081	NM_001370461.1(GLB1L2):c.799G>A (p.Val267Ile)	GLB1L2 (V267I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272663	NM_001370461.1(GLB1L2):c.871A>G (p.Asn291Asp)	GLB1L2 (N291D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281509	NM_001370461.1(GLB1L2):c.913A>G (p.Ile305Val)	GLB1L2 (I305V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590236	NM_001370461.1(GLB1L2):c.922G>A (p.Ala308Thr)	GLB1L2 (A308T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241264	NM_001370461.1(GLB1L2):c.977T>C (p.Met326Thr)	GLB1L2 (M326T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100063	NM_001370461.1(GLB1L2):c.1064C>T (p.Thr355Met)	GLB1L2 (T355M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610310	NM_001370461.1(GLB1L2):c.1064C>G (p.Thr355Arg)	GLB1L2 (T409R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339761	NM_001370461.1(GLB1L2):c.1075A>T (p.Met359Leu)	GLB1L2 (M359L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522935	NM_001370461.1(GLB1L2):c.1127C>T (p.Pro376Leu)	GLB1L2 (P430L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100064	NM_001370461.1(GLB1L2):c.1135C>T (p.Leu379Phe)	GLB1L2 (L433F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402763	NM_001370461.1(GLB1L2):c.1166C>T (p.Thr389Met)	GLB1L2 (T389M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327219	NM_001370461.1(GLB1L2):c.1186C>G (p.Leu396Val)	GLB1L2 (L396V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387531	NM_001370461.1(GLB1L2):c.1207C>G (p.Leu403Val)	GLB1L2 (L403V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404697	NM_001370461.1(GLB1L2):c.1211G>A (p.Gly404Glu)	GLB1L2 (G404E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320826	NM_001370461.1(GLB1L2):c.1243A>G (p.Met415Val)	GLB1L2 (M415V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213563	NM_001370461.1(GLB1L2):c.1298A>G (p.Tyr433Cys)	GLB1L2 (Y487C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318885	NM_001370461.1(GLB1L2):c.1334G>A (p.Gly445Asp)	GLB1L2 (G445D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608980	NM_001370461.1(GLB1L2):c.1402A>G (p.Thr468Ala)	GLB1L2 (T468A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100065	NM_001370461.1(GLB1L2):c.1417C>A (p.Pro473Thr)	GLB1L2 (P473T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281511	NM_001370461.1(GLB1L2):c.1430G>A (p.Gly477Asp)	GLB1L2 (G531D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100066	NM_001370461.1(GLB1L2):c.1469G>A (p.Arg490Gln)	GLB1L2 (R544Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281294	NM_001370461.1(GLB1L2):c.1471G>C (p.Val491Leu)	GLB1L2 (V491L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340669	NM_001370461.1(GLB1L2):c.1547A>G (p.Lys516Arg)	GLB1L2 (K570R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784209	NM_001370461.1(GLB1L2):c.1708-6T>G	GLB1L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3100067	NM_001370461.1(GLB1L2):c.1708G>T (p.Gly570Cys)	GLB1L2 (G570C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276585	NM_001370461.1(GLB1L2):c.1766T>C (p.Ile589Thr)	GLB1L2 (I589T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100069	NM_001370461.1(GLB1L2):c.1871C>T (p.Thr624Met)	GLB1L2 (T678M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100070	NM_001370461.1(GLB1L2):c.1882C>T (p.His628Tyr)	GLB1L2 (H628Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100071	NM_001370461.1(GLB1L2):c.1896C>G (p.Asn632Lys)	GLB1L2 (N632K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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