Related gene-specific medical variations for Gene (Select 1889) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032411	NM_001397.3(ECE1):c.24G>A (p.Pro8=)	ECE1, LOC129929606	Single nucleotide variant (synonymous variant +1 more)	ECE1-related disorder	GBenign
Select item 2610756	NM_001397.3(ECE1):c.44C>T (p.Ala15Val)	ECE1, LOC129929606 (A15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610755	NM_001397.3(ECE1):c.43G>T (p.Ala15Ser)	ECE1, LOC129929606 (A15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407489	NM_001397.3(ECE1):c.19C>T (p.Pro7Ser)	ECE1, LOC129929606 (P7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264419	NM_001397.3(ECE1):c.43G>A (p.Ala15Thr)	ECE1, LOC129929606 (A15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1342525	NM_001397.3(ECE1):c.877G>A (p.Gly293Ser)	ECE1 (G277S +3 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, cardiac defects, and autonomic dysfunction	GUncertain significance
Select item 258087	NM_001397.3(ECE1):c.1782-4C>A	ECE1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 258086	NM_001397.3(ECE1):c.1671-21_1671-20delinsGG	ECE1	Indel (intron variant)	not specified	GLikely benign
Select item 258082	NM_001397.3(ECE1):c.1278+7C>T	ECE1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 258081	NM_001397.3(ECE1):c.1164-5C>T	ECE1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 258080	NM_001397.3(ECE1):c.1155C>T (p.Thr385=)	ECE1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 258079	NM_001397.3(ECE1):c.1022C>T (p.Thr341Ile)	ECE1 (T325I +3 more)	Single nucleotide variant (missense variant)	not specified	GBenign