Related gene-specific medical variations for Gene (Select 54681) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360771	NM_177939.3(P4HTM):c.1340C>T (p.Thr447Met)	P4HTM (T447M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3303839	NM_177939.3(P4HTM):c.83A>G (p.Asp28Gly)	LOC129936725, P4HTM (D28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207774	NM_177939.3(P4HTM):c.139C>T (p.Arg47Cys)	LOC129936725, P4HTM (R47C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207773	NM_177939.3(P4HTM):c.109G>C (p.Gly37Arg)	LOC129936725, P4HTM (G37R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662675	NM_177939.3(P4HTM):c.201C>A (p.Phe67Leu)	LOC129936725, P4HTM (F67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653807	NM_177939.3(P4HTM):c.99G>A (p.Gln33=)	LOC129936725, P4HTM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535624	NM_177939.3(P4HTM):c.202G>C (p.Val68Leu)	LOC129936725, P4HTM (V68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535623	NM_177939.3(P4HTM):c.201C>G (p.Phe67Leu)	LOC129936725, P4HTM (F67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2370185	NM_177939.3(P4HTM):c.137T>G (p.Val46Gly)	LOC129936725, P4HTM (V46G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276536	NM_177939.3(P4HTM):c.83A>C (p.Asp28Ala)	LOC129936725, P4HTM (D28A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2148228	NM_177939.3(P4HTM):c.184del (p.Leu62fs)	LOC129936725, P4HTM (L62fs)	Deletion (frameshift variant)	not provided	GPathogenic