Related gene-specific medical variations for Gene (Select 23169) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126439	NM_001077700.3(MIER1):c.1510C>G (p.Leu504Val)	LOC129388544, MIER1 +1 more (L504V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126438	NM_001077700.3(MIER1):c.1465C>T (p.Pro489Ser)	LOC129388544, MIER1 +1 more (P409S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126437	NM_001077700.3(MIER1):c.1246C>T (p.Leu416Phe)	MIER1, SLC35D1 (L380F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024943	NM_001077700.3(MIER1):c.1378T>C (p.Ser460Pro)	LOC129388544, LOC129930727 +2 more (S344P +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2515973	NM_001077700.3(MIER1):c.1487C>T (p.Thr496Ile)	LOC129388544, MIER1 +1 more (T460I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375648	NM_001077700.3(MIER1):c.1531G>A (p.Ala511Thr)	LOC129388544, MIER1 +1 more (A458T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281735	NM_001077700.3(MIER1):c.1528C>T (p.Leu510Phe)	LOC129388544, MIER1 +1 more (L430F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1325087	NM_015139.3(SLC35D1):c.496_497del (p.Val166fs)	SLC35D1 (V166fs)	Deletion (frameshift variant)	Schneckenbecken dysplasia	GLikely pathogenic
Select item 1283163	NM_015139.3(SLC35D1):c.203+59G>T	LOC129930729, SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260216	NM_015139.3(SLC35D1):c.203+161G>C	LOC129930729, SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247513	NM_015139.3(SLC35D1):c.203+72C>T	LOC129930729, SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219319	NM_015139.3(SLC35D1):c.203+64G>A	LOC129930729, SLC35D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 811263	NM_015139.3(SLC35D1):c.660C>G (p.Leu220=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign