P4HTM[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2276536	NM_177939.3(P4HTM):c.83A>C (p.Asp28Ala)	P4HTM, LOC129936725 (D28A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2148228	NM_177939.3(P4HTM):c.184del (p.Leu62fs)	LOC129936725, P4HTM (L62fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 2524749	NM_177939.3(P4HTM):c.232C>G (p.Leu78Val)	P4HTM (L78V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 635796	NM_177939.3(P4HTM):c.286dup (p.Gln96fs)	P4HTM (Q96fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 2136031	NM_177939.3(P4HTM):c.472C>G (p.Leu158Val)	P4HTM (L158V)	Single nucleotide variant (missense variant)	not provided	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 2371234	NM_177939.3(P4HTM):c.488C>T (p.Ala163Val)	P4HTM (A163V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2653808	NM_177939.3(P4HTM):c.534G>A (p.Glu178=)	P4HTM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2156633	NM_177939.3(P4HTM):c.649G>T (p.Gly217Ter)	P4HTM (G217*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2454535	NM_177939.3(P4HTM):c.652A>G (p.Asn218Asp)	P4HTM (N218D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254369	NM_177939.3(P4HTM):c.659G>A (p.Trp220Ter)	P4HTM (W220*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3034447	NM_177939.3(P4HTM):c.677G>A (p.Ser226Asn)	P4HTM (S226N)	Single nucleotide variant (missense variant)	P4HTM-related condition	GLikely benign
Select item 2653809	NM_177939.3(P4HTM):c.679A>G (p.Ile227Val)	P4HTM (I227V)	Single nucleotide variant (missense variant)	P4HTM-related condition +1 more	GBenign
Select item 2653810	NM_177939.3(P4HTM):c.696C>T (p.Ala232=)	P4HTM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347463	NM_177939.3(P4HTM):c.697G>A (p.Ala233Thr)	P4HTM (A233T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498931	NM_177939.3(P4HTM):c.699G>A (p.Ala233=)	P4HTM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369981	NM_177939.3(P4HTM):c.706G>T (p.Ala236Ser)	P4HTM (A236S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2682831	NM_177939.3(P4HTM):c.806G>C (p.Ser269Thr)	P4HTM (S269T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662679	NM_177939.3(P4HTM):c.817C>T (p.Arg273Trp)	P4HTM (R273W)	Single nucleotide variant (missense variant)	not provided	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 2615964	NM_177939.3(P4HTM):c.848G>C (p.Gly283Ala)	P4HTM (G283A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2323755	NM_177939.3(P4HTM):c.902C>T (p.Thr301Ile)	P4HTM (T301I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653811	NM_177939.3(P4HTM):c.921C>T (p.Ile307=)	P4HTM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2531223	NM_177939.3(P4HTM):c.1000G>C (p.Val334Leu)	P4HTM (V334L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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
Select item 2653812	NM_177939.3(P4HTM):c.1073+36T>G	P4HTM (L370R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2653813	NM_177939.3(P4HTM):c.1073+38A>G	P4HTM (R371G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2553787	NM_177939.3(P4HTM):c.1073+62G>A	P4HTM (A379T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348298	NM_177939.3(P4HTM):c.1073+83G>A	P4HTM (V386M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2135986	NM_177939.3(P4HTM):c.1073+129G>C	P4HTM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2528180	NM_177939.3(P4HTM):c.1074-31G>C	P4HTM (G409A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544990	NM_177939.3(P4HTM):c.1074-22C>T	P4HTM (S412L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2074552	NM_177939.3(P4HTM):c.1074-11del	P4HTM (L416fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3067469	NM_177939.3(P4HTM):c.1074-12C>A	P4HTM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2616783	NM_177939.3(P4HTM):c.1193G>A (p.Arg398His)	P4HTM (R398H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303426	NM_177939.3(P4HTM):c.1228C>A (p.Arg410Ser)	P4HTM (R410S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981901	NM_177939.3(P4HTM):c.1238C>T (p.Pro413Leu)	P4HTM (P413L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 2543676	NM_177939.3(P4HTM):c.1274T>G (p.Leu425Arg)	P4HTM (L425R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1050338	NM_177939.3(P4HTM):c.1436G>A (p.Arg479Gln)	P4HTM (R479Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2207379	NM_177939.3(P4HTM):c.1478G>A (p.Arg493Gln)	P4HTM (R554Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	ALS2CL, ARIH2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	COL7A1, DAG1 +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	MST1, ARIH2 +64 more	Copy number loss	not provided	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 63