Related gene-specific medical variations for Gene (Select 9242) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296205	NM_005098.4(MSC):c.21T>A (p.Ser7Arg)	MSC, MSC-AS1 (S7R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211096	NM_005098.4(MSC):c.515A>G (p.Tyr172Cys)	MSC, MSC-AS1 (Y172C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211081	NM_005098.4(MSC):c.292A>G (p.Lys98Glu)	LOC130000587, MSC +1 more (K98E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658648	NM_005098.4(MSC):c.90C>G (p.Pro30=)	MSC, MSC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607106	NM_005098.4(MSC):c.352G>T (p.Ala118Ser)	LOC130000587, MSC +1 more (A118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482381	NM_005098.4(MSC):c.304G>A (p.Ala102Thr)	LOC130000587, MSC +1 more (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409821	NM_005098.4(MSC):c.241G>A (p.Gly81Ser)	LOC130000587, MSC +1 more (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386583	NM_005098.4(MSC):c.259G>T (p.Ala87Ser)	LOC130000587, MSC +1 more (A87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313901	NM_005098.4(MSC):c.88C>T (p.Pro30Ser)	MSC, MSC-AS1 (P30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306207	NM_005098.4(MSC):c.435G>C (p.Lys145Asn)	MSC, MSC-AS1 (K145N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275569	NM_005098.4(MSC):c.37G>C (p.Glu13Gln)	MSC, MSC-AS1 (E13Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2268338	NM_005098.4(MSC):c.226C>T (p.Arg76Cys)	LOC130000587, MSC +1 more (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527441	GRCh37/hg19 8q13.3(chr8:72314204-72924788)	MSC	Copy number loss	not specified	GPathogenic