Related gene-specific medical variations for Gene (Select 9949) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360793	NM_015365.3(AMMECR1):c.943CAT[2] (p.His317del)	AMMECR1 (H194del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3066002	NM_015365.3(AMMECR1):c.888-610_*1821del	AMMECR1	Deletion (splice acceptor variant)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 2661193	NM_001396022.1(GNG5B):c.30G>T (p.Thr10=)	AMMECR1, GNG5B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661192	NM_015365.3(AMMECR1):c.220C>G (p.Gln74Glu)	AMMECR1, LOC130068555 (Q74E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2582539	NM_015365.3(AMMECR1):c.887+2T>A	AMMECR1	Single nucleotide variant (splice donor variant)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 2569331	NM_015365.3(AMMECR1):c.250G>T (p.Ala84Ser)	AMMECR1, LOC130068555 (A84S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2287262	NM_015365.3(AMMECR1):c.238G>C (p.Gly80Arg)	AMMECR1, LOC130068555 (G80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230952	NM_015365.3(AMMECR1):c.220C>A (p.Gln74Lys)	AMMECR1, LOC130068555 (Q74K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 998005	NM_015365.3(AMMECR1):c.805C>T (p.Gln269Ter)	AMMECR1 (Q146* +2 more)	Single nucleotide variant (nonsense)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 599546	NM_015365.3(AMMECR1):c.454del (p.Arg152fs)	AMMECR1 (R152fs +1 more)	Deletion (frameshift variant)	Short stature	GPathogenic
Select item 592175	t(X;9)(q23;q12)dn	AMMECR1	Translocation	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic