MPZL1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 3203659	NM_003953.6(MPZL1):c.14C>A (p.Ala5Asp)	MPZL1 (A5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203694	NM_003953.6(MPZL1):c.88C>T (p.Leu30Phe)	MPZL1 (L30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552365	NM_003953.6(MPZL1):c.117A>C (p.Glu39Asp)	MPZL1 (E39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351468	NM_003953.6(MPZL1):c.136A>G (p.Ile46Val)	MPZL1 (I46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225413	NM_003953.6(MPZL1):c.194C>T (p.Thr65Met)	MPZL1 (T65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710258	NM_003953.6(MPZL1):c.195G>A (p.Thr65=)	MPZL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771315	NM_003953.6(MPZL1):c.216C>T (p.Val72=)	MPZL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3203665	NM_003953.6(MPZL1):c.500T>C (p.Val167Ala)	MPZL1 (V167A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203668	NM_003953.6(MPZL1):c.539C>T (p.Thr180Ile)	MPZL1 (T180I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288990	NM_003953.6(MPZL1):c.551G>A (p.Ser184Asn)	MPZL1 (S184N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553257	NM_003953.6(MPZL1):c.711C>G (p.Gly237=)	MPZL1 (A203G)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2256381	NM_003953.6(MPZL1):c.712C>T (p.Pro238Ser)	MPZL1 (P88S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454366	NM_003953.6(MPZL1):c.754A>G (p.Ser252Gly)	MPZL1 (S252G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203685	NM_003953.6(MPZL1):c.776A>T (p.Glu259Val)	MPZL1 (E259V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2427631	NC_000001.10:g.(?_167400918)_(168282240_?)dup	ADCY10, CD247 +9 more	Duplication	Immunodeficiency 25	GUncertain significance
Select item 2426469	NC_000001.10:g.(?_167757057)_(167817727_?)dup	ADCY10, MPZL1	Duplication	not provided	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1340498	GRCh37/hg19 1q24.2(chr1:167741130-168188082)x1	ADCY10, DCAF6 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 34