Related gene-specific medical variations for Gene (Select 4481) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445377	NM_138715.3(MSR1):c.1223G>C (p.Gly408Ala)	MSR1 (G408A +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445374	NM_138715.3(MSR1):c.722A>G (p.Lys241Arg)	MSR1 (K241R +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445365	NM_138715.3(MSR1):c.68T>G (p.Phe23Cys)	MSR1 (F23C +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445354	NM_138715.3(MSR1):c.905C>A (p.Pro302Gln)	MSR1 (P302Q +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445304	NM_138715.3(MSR1):c.482C>A (p.Thr161Asn)	MSR1 (T161N +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445297	NM_138715.3(MSR1):c.833C>T (p.Pro278Leu)	MSR1 (P278L +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445261	NM_138715.3(MSR1):c.10T>A (p.Trp4Arg)	MSR1 (W22R +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 1809214	GRCh37/hg19 8p22(chr8:16024179-16418370)x3	MSR1	Copy number gain	not provided	GUncertain significance
Select item 1012376	GRCh37/hg19 8p22(chr8:15721096-16208574)x3	MSR1	Copy number gain	See cases	GUncertain significance
Select item 221721	GRCh38/hg38 8p22(chr8:16081832-16163959)x1	MSR1	Copy number loss	Premature ovarian failure	GBenign
Select item 157101	Single allele	MSR1	Deletion	Large for gestational age +1 more	Gnot provided
Select item 153477	GRCh38/hg38 8p22(chr8:16016852-16217064)x1	MSR1	Copy number loss	See cases	GUncertain significance
Select item 144950	GRCh38/hg38 8p22(chr8:16094502-16164176)x1	MSR1	Copy number loss	See cases	GBenign/Likely benign
Select item 58960	GRCh38/hg38 8p22(chr8:16095273-16164235)x1	MSR1	Copy number loss	See cases	GUncertain significance