MOBP[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 3187413	NM_001393704.1(MOBP):c.66C>A (p.Phe22Leu)	MOBP (F22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268636	NM_001393704.1(MOBP):c.92C>T (p.Thr31Ile)	MOBP (T31I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2631821	NM_001393704.1(MOBP):c.206+5G>C	MOBP	Single nucleotide variant (intron variant)	MOBP-related disorder	GUncertain significance
Select item 3057625	NM_001393704.1(MOBP):c.207-27G>A	MOBP	Single nucleotide variant (synonymous variant +1 more)	MOBP-related disorder	GLikely benign
Select item 2634486	NM_001393704.1(MOBP):c.250C>T (p.Pro84Ser)	MOBP (P108S +1 more)	Single nucleotide variant (missense variant +2 more)	MOBP-related disorder	GUncertain significance
Select item 2636755	NM_001393704.1(MOBP):c.260C>T (p.Pro87Leu)	MOBP (P111L +1 more)	Single nucleotide variant (missense variant +2 more)	MOBP-related disorder	GUncertain significance
Select item 3052120	NM_001393704.1(MOBP):c.294GTCCCCTCCGAGGTCTGAGCGTCAGCCACG[3] (p.99SPPRSERQPR[3])	MOBP	Microsatellite (inframe deletion +3 more)	MOBP-related disorder	GLikely benign
Select item 2634225	NM_001393704.1(MOBP):c.361C>T (p.Pro121Ser)	MOBP (P121S +1 more)	Single nucleotide variant (missense variant +2 more)	MOBP-related disorder	GUncertain significance
Select item 981023	NM_001393704.1(MOBP):c.514C>A (p.Arg172Ser)	MOBP (R172S +1 more)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 3024627	GRCh37/hg19 3p22.2-22.1(chr3:39373823-39531618)x3	CCR8, MOBP +3 more	Copy number gain	not provided	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	AZI2, CCR4 +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic