Related gene-specific medical variations for Gene (Select 23670) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142204	NM_013390.3(CEMIP2):c.3848C>T (p.Pro1283Leu)	CEMIP2, LOC126860635 (P1220L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142203	NM_013390.3(CEMIP2):c.3758G>A (p.Cys1253Tyr)	CEMIP2, LOC126860635 (C615Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142202	NM_013390.3(CEMIP2):c.3755C>T (p.Pro1252Leu)	CEMIP2, LOC126860635 (P1252L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142201	NM_013390.3(CEMIP2):c.3722G>A (p.Arg1241Gln)	CEMIP2, LOC126860635 (R1178Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2659253	NM_013390.3(CEMIP2):c.3735C>T (p.Val1245=)	CEMIP2, LOC126860635	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591670	NM_013390.3(CEMIP2):c.3814C>T (p.Arg1272Cys)	CEMIP2, LOC126860635 (R1272C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589693	NM_013390.3(CEMIP2):c.3773G>A (p.Arg1258His)	CEMIP2, LOC126860635 (R1195H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549549	NM_013390.3(CEMIP2):c.3762C>A (p.Ser1254Arg)	CEMIP2, LOC126860635 (S1254R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476865	NM_013390.3(CEMIP2):c.3701A>G (p.Asn1234Ser)	CEMIP2, LOC126860635 (N1234S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance