112937[Gene ID] - 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 2387958	NM_001080407.3(GLB1L3):c.100A>G (p.Lys34Glu)	GLB1L3 (K34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100083	NM_001080407.3(GLB1L3):c.106G>A (p.Glu36Lys)	GLB1L3 (E36K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281517	NM_001080407.3(GLB1L3):c.173C>T (p.Pro58Leu)	GLB1L3 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100089	NM_001080407.3(GLB1L3):c.191G>C (p.Arg64Pro)	GLB1L3 (R64P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100092	NM_001080407.3(GLB1L3):c.261C>G (p.Phe87Leu)	GLB1L3 (F87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100093	NM_001080407.3(GLB1L3):c.371C>T (p.Pro124Leu)	GLB1L3 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100094	NM_001080407.3(GLB1L3):c.383A>G (p.His128Arg)	GLB1L3 (H128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597227	NM_001080407.3(GLB1L3):c.439G>A (p.Val147Ile)	GLB1L3 (V147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281518	NM_001080407.3(GLB1L3):c.460G>A (p.Gly154Arg)	GLB1L3 (G154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281513	NM_001080407.3(GLB1L3):c.478C>T (p.Arg160Cys)	GLB1L3 (R160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211499	NM_001080407.3(GLB1L3):c.479G>A (p.Arg160His)	GLB1L3 (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542148	NM_001080407.3(GLB1L3):c.499A>G (p.Ser167Gly)	GLB1L3 (S167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100095	NM_001080407.3(GLB1L3):c.541G>C (p.Asp181His)	GLB1L3 (D181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623075	NM_001080407.3(GLB1L3):c.562A>G (p.Thr188Ala)	GLB1L3 (T188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555828	NM_001080407.3(GLB1L3):c.563C>A (p.Thr188Lys)	GLB1L3 (T188K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281514	NM_001080407.3(GLB1L3):c.581T>C (p.Ile194Thr)	GLB1L3 (I194T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255500	NM_001080407.3(GLB1L3):c.590T>C (p.Val197Ala)	GLB1L3 (V197A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3100096	NM_001080407.3(GLB1L3):c.799C>T (p.His267Tyr)	GLB1L3 (H267Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381805	NM_001080407.3(GLB1L3):c.827A>G (p.Asn276Ser)	GLB1L3 (N276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100097	NM_001080407.3(GLB1L3):c.831G>T (p.Leu277Phe)	GLB1L3 (L277F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232018	NM_001080407.3(GLB1L3):c.896T>C (p.Ile299Thr)	GLB1L3 (I299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100098	NM_001080407.3(GLB1L3):c.922G>A (p.Asp308Asn)	GLB1L3 (D308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486203	NM_001080407.3(GLB1L3):c.932G>T (p.Gly311Val)	GLB1L3 (G311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410548	NM_001080407.3(GLB1L3):c.973G>A (p.Ala325Thr)	GLB1L3 (A325T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601805	NM_001080407.3(GLB1L3):c.1079C>T (p.Ser360Leu)	GLB1L3 (S360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100084	NM_001080407.3(GLB1L3):c.1250A>G (p.Tyr417Cys)	GLB1L3 (Y417C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328361	NM_001080407.3(GLB1L3):c.1300C>G (p.Arg434Gly)	GLB1L3 (R434G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100085	NM_001080407.3(GLB1L3):c.1330A>G (p.Ile444Val)	GLB1L3 (I444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550863	NM_001080407.3(GLB1L3):c.1408C>T (p.His470Tyr)	GLB1L3 (H470Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391100	NM_001080407.3(GLB1L3):c.1418A>G (p.Asp473Gly)	GLB1L3 (D473G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523770	NM_001080407.3(GLB1L3):c.1508G>A (p.Arg503Gln)	GLB1L3 (R503Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265078	NM_001080407.3(GLB1L3):c.1525G>A (p.Val509Met)	GLB1L3 (V509M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260668	NM_001080407.3(GLB1L3):c.1589G>A (p.Gly530Glu)	GLB1L3 (G530E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615091	NM_001080407.3(GLB1L3):c.1606A>G (p.Asn536Asp)	GLB1L3 (N536D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281512	NM_001080407.3(GLB1L3):c.1634A>G (p.Tyr545Cys)	GLB1L3 (Y545C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204223	NM_001080407.3(GLB1L3):c.1637C>G (p.Ser546Cys)	GLB1L3 (S546C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100086	NM_001080407.3(GLB1L3):c.1640T>C (p.Leu547Pro)	GLB1L3 (L547P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281516	NM_001080407.3(GLB1L3):c.1646T>C (p.Met549Thr)	GLB1L3 (M549T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309721	NM_001080407.3(GLB1L3):c.1646T>A (p.Met549Lys)	GLB1L3 (M549K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281515	NM_001080407.3(GLB1L3):c.1699G>C (p.Asp567His)	GLB1L3 (D567H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681298	NM_001080407.3(GLB1L3):c.1725C>T (p.Tyr575=)	GLB1L3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2520573	NM_001080407.3(GLB1L3):c.1807A>C (p.Asn603His)	GLB1L3 (N603H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393158	NM_001080407.3(GLB1L3):c.1808A>G (p.Asn603Ser)	GLB1L3 (N603S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100087	NM_001080407.3(GLB1L3):c.1813C>T (p.Arg605Cys)	GLB1L3 (R605C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393295	NM_001080407.3(GLB1L3):c.1814G>A (p.Arg605His)	GLB1L3 (R605H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276659	NM_001080407.3(GLB1L3):c.1880A>G (p.His627Arg)	GLB1L3 (H627R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100088	NM_001080407.3(GLB1L3):c.1917G>T (p.Met639Ile)	GLB1L3 (M639I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100091	NM_001080407.3(GLB1L3):c.1955C>T (p.Thr652Met)	GLB1L3 (T652M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3063191	GRCh37/hg19 11q25(chr11:132499295-134938470)x1	ACAD8, B3GAT1 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2505490	GRCh37/hg19 11q25(chr11:131952484-134938470)x1	NTM, SPATA19 +12 more	Copy number loss	Feeding difficulties +3 more	GPathogenic

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