Related gene-specific medical variations for Gene (Select 23741) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087829	NM_014335.3(EID1):c.515A>G (p.Asn172Ser)	EID1, SHC4 (N172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087828	NM_014335.3(EID1):c.49C>G (p.Leu17Val)	EID1, LOC130057026 +1 more (L17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087827	NM_014335.3(EID1):c.37G>C (p.Glu13Gln)	EID1, LOC130057026 +1 more (E13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087826	NM_014335.3(EID1):c.217C>T (p.Arg73Trp)	EID1, SHC4 (R73W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597962	NM_014335.3(EID1):c.11T>C (p.Met4Thr)	EID1, LOC130057026 +1 more (M4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492922	NM_014335.3(EID1):c.194C>T (p.Pro65Leu)	EID1, LOC130057026 +1 more (P65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410834	NM_014335.3(EID1):c.170C>G (p.Pro57Arg)	EID1, LOC130057026 +1 more (P57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382800	NM_014335.3(EID1):c.184G>A (p.Glu62Lys)	EID1, LOC130057026 +1 more (E62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341776	NM_014335.3(EID1):c.65T>C (p.Met22Thr)	EID1, LOC130057026 +1 more (M22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319205	NM_014335.3(EID1):c.152A>G (p.Gln51Arg)	EID1, LOC130057026 +1 more (Q51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315054	NM_014335.3(EID1):c.149A>C (p.Gln50Pro)	EID1, LOC130057026 +1 more (Q50P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2258549	NM_014335.3(EID1):c.240C>A (p.Asn80Lys)	EID1, SHC4 (N80K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance