ClinVar for MedGen (Select 934777) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1678616	NM_015365.3(AMMECR1):c.799C>T (p.His267Tyr)	AMMECR1 (H144Y +2 more)	Single nucleotide variant (missense variant)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GUncertain significance
Select item 1678555	NM_015365.3(AMMECR1):c.791G>T (p.Gly264Val)	AMMECR1 (G141V +2 more)	Single nucleotide variant (missense variant)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	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 817076	NM_015365.3(AMMECR1):c.454dup (p.Arg152fs)	AMMECR1 (R152fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 592175	t(X;9)(q23;q12)dn	AMMECR1	Translocation	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 560072	Single allele	AMMECR1, TMEM164	Duplication	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GUncertain significance
Select item 446219	NC_000023.11:g.110250890_110665082del	RTL9, AMMECR1 +9 more	Deletion	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GPathogenic
Select item 446130	NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter)	AMMECR1 (Y143* +1 more)	Single nucleotide variant (nonsense)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 375305	NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter)	AMMECR1 (R45* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 375304	NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp)	AMMECR1 (G177D +1 more)	Single nucleotide variant (missense variant +1 more)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GPathogenic