ClinVar for OMIM (Select 618493) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391262	NM_177939.3(P4HTM):c.436G>A (p.Glu146Lys)	P4HTM (E146K)	Single nucleotide variant (missense variant)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GUncertain significance
Select item 2585134	NM_177939.3(P4HTM):c.1165_1166del	P4HTM	Microsatellite (splice acceptor variant)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GLikely pathogenic
Select item 2503452	NM_177939.3(P4HTM):c.819dup (p.Asn274fs)	P4HTM (N274fs)	Duplication (frameshift variant)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GLikely pathogenic
Select item 2434542	NM_177939.3(P4HTM):c.1074-11dup	P4HTM (L416fs)	Duplication (frameshift variant +1 more)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GUncertain significance
Select item 2434541	NM_177939.3(P4HTM):c.509G>A (p.Arg170His)	P4HTM (R170H)	Single nucleotide variant (missense variant)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GUncertain significance
Select item 2434540	NM_177939.3(P4HTM):c.551G>C (p.Ser184Thr)	P4HTM (S184T)	Single nucleotide variant (missense variant)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GUncertain significance
Select item 1030359	NM_177939.3(P4HTM):c.888-3C>A	P4HTM	Single nucleotide variant (intron variant)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GUncertain significance
Select item 635798	NM_177939.3(P4HTM):c.949del (p.Val317fs)	P4HTM (V317fs)	Deletion (frameshift variant)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GUncertain significance
Select item 635797	NM_177939.3(P4HTM):c.1411C>T (p.Gln471Ter)	P4HTM (Q532* +1 more)	Single nucleotide variant (nonsense)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GPathogenic
Select item 635796	NM_177939.3(P4HTM):c.286dup (p.Gln96fs)	P4HTM (Q96fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 635795	NM_177939.3(P4HTM):c.482A>C (p.His161Pro)	P4HTM (H161P)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 635794	NM_177939.3(P4HTM):c.1073G>A (p.Arg358His)	P4HTM (R358Q +1 more)	Single nucleotide variant (missense variant)	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	GPathogenic