MPZL2[gene] - ClinVar

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Items: 79

	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 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 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 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 3057272	NM_005797.4(MPZL2):c.*2A>C	MPZL2	Single nucleotide variant (3 prime UTR variant)	MPZL2-related disorder	GLikely benign
Select item 3040608	NM_005797.4(MPZL2):c.630T>C (p.Tyr210=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign
Select item 3036552	NM_005797.4(MPZL2):c.603C>T (p.Leu201=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign
Select item 2491469	NM_005797.4(MPZL2):c.600G>C (p.Arg200Ser)	MPZL2 (R200S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203737	NM_005797.4(MPZL2):c.545G>A (p.Arg182Gln)	MPZL2 (R182Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1324734	NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter)	MPZL2 (R182*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 111	GLikely pathogenic
Select item 2305844	NM_005797.4(MPZL2):c.512T>C (p.Val171Ala)	MPZL2 (V171A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203731	NM_005797.4(MPZL2):c.473T>C (p.Ile158Thr)	MPZL2 (I158T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689320	NM_005797.4(MPZL2):c.463del (p.Ala155fs)	MPZL2 (A155fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive 111	GPathogenic
Select item 2517489	NM_005797.4(MPZL2):c.439C>T (p.Arg147Cys)	MPZL2 (R147C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3358825	NM_005797.4(MPZL2):c.437T>C (p.Val146Ala)	MPZL2 (V146A)	Single nucleotide variant (missense variant)	MPZL2-related disorder	GLikely benign
Select item 1278235	NM_005797.4(MPZL2):c.437-133A>G	MPZL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277465	NM_005797.4(MPZL2):c.437-226T>C	MPZL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2293470	NM_005797.4(MPZL2):c.427G>C (p.Val143Leu)	MPZL2 (V143L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048028	NM_005797.4(MPZL2):c.423C>T (p.Ser141=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign
Select item 3064681	NM_005797.4(MPZL2):c.417del (p.Leu140fs)	MPZL2 (L140fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive 111	GLikely pathogenic
Select item 3033516	NM_005797.4(MPZL2):c.416G>A (p.Arg139Gln)	MPZL2 (R139Q)	Single nucleotide variant (missense variant)	MPZL2-related disorder	GBenign
Select item 1216057	NM_005797.4(MPZL2):c.386C>G (p.Pro129Arg)	MPZL2 (P129R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3057026	NM_005797.4(MPZL2):c.345C>T (p.Phe115=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign
Select item 3203717	NM_005797.4(MPZL2):c.342G>T (p.Gln114His)	MPZL2 (Q114H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321751	NM_005797.4(MPZL2):c.340C>T (p.Gln114Ter)	MPZL2 (Q114*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3203713	NM_005797.4(MPZL2):c.331T>C (p.Trp111Arg)	MPZL2 (W111R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1301681	NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs)	MPZL2 (I108fs)	Duplication (frameshift variant)	Hearing loss, autosomal recessive 111	GLikely pathogenic
Select item 3295769	NM_005797.4(MPZL2):c.308G>A (p.Arg103Gln)	MPZL2 (R103Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032146	NM_005797.4(MPZL2):c.290G>A (p.Trp97Ter)	MPZL2 (W97*)	Single nucleotide variant (nonsense)	MPZL2-related disorder	GLikely pathogenic
Select item 2628069	NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)	MPZL2 (R94W)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 111	GLikely pathogenic
Select item 2578670	NM_005797.4(MPZL2):c.278A>T (p.Asp93Val)	MPZL2 (D93V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2515193	NM_005797.4(MPZL2):c.256C>T (p.Pro86Ser)	MPZL2 (P86S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1257926	NM_005797.4(MPZL2):c.255A>G (p.Gln85=)	MPZL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 993009	NM_005797.4(MPZL2):c.226-1G>A	MPZL2	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal recessive 111	GLikely pathogenic
Select item 1691784	NM_005797.4(MPZL2):c.226-2A>T	MPZL2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 585269	NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)	MPZL2 (Q74*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 111	GPathogenic
Select item 3295770	NM_005797.4(MPZL2):c.212G>T (p.Gly71Val)	MPZL2 (G71V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262306	NM_005797.4(MPZL2):c.212G>A (p.Gly71Glu)	MPZL2 (G71E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445648	NM_005797.4(MPZL2):c.161del (p.Pro54fs)	MPZL2 (P54fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive 111	GPathogenic
Select item 2403290	NM_005797.4(MPZL2):c.98G>A (p.Arg33Gln)	MPZL2 (R33Q)	Single nucleotide variant (missense variant)	MPZL2-related disorder +1 more	GUncertain significance
Select item 585268	NM_005797.4(MPZL2):c.72del (p.Ile24fs)	MPZL2 (I24fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive +2 more	GPathogenic/Likely pathogenic
Select item 3295768	NM_005797.4(MPZL2):c.68C>G (p.Pro23Arg)	MPZL2 (P23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705474	NM_005797.4(MPZL2):c.68del (p.Pro23fs)	MPZL2 (P23fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive 111	GPathogenic/Likely pathogenic
Select item 1229766	NM_005797.4(MPZL2):c.59-100_59-96del	MPZL2	Microsatellite (intron variant)	not provided	GBenign
Select item 1224299	NM_005797.4(MPZL2):c.58+26A>C	LOC130006841, MPZL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 779148	NM_005797.4(MPZL2):c.39C>T (p.Leu13=)	MPZL2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3056265	NM_005797.4(MPZL2):c.27G>A (p.Ala9=)	MPZL2	Single nucleotide variant (synonymous variant)	MPZL2-related disorder	GLikely benign
Select item 1803695	NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)	MPZL2 (M1I)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal recessive 111	GLikely pathogenic
Select item 3349459	NM_005797.4(MPZL2):c.2T>C (p.Met1Thr)	MPZL2 (M1T)	Single nucleotide variant (missense variant +1 more)	MPZL2-related disorder	GLikely pathogenic
Select item 1271677	NC_000011.10:g.118264734C>T	MPZL2	Single nucleotide variant	not provided	GBenign
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	RNF26, TAGLN +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Inflammatory bowel disease 28 +4 more	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	ARCN1, ATP5MG +31 more	Deletion	Combined immunodeficiency due to CD3gamma deficiency +3 more	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	DDX6, DPAGT1 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 79