ClinVar for MedGen (Select 1640947) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2979879	NM_013335.4(GMPPA):c.1185C>T (p.Ala395=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2973448	NM_013335.4(GMPPA):c.561T>C (p.Ser187=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2900262	NM_013335.4(GMPPA):c.243-17C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2769661	NM_013335.4(GMPPA):c.118del (p.His40fs)	GMPPA, ASIC4-AS1 (H40fs)	Deletion (frameshift variant)	Alacrima, achalasia, and intellectual disability syndrome	GPathogenic
Select item 2721268	NM_013335.4(GMPPA):c.490-18A>G	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2716327	NM_013335.4(GMPPA):c.41-16C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2629420	NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)	ASIC4-AS1, GMPPA (R264*)	Single nucleotide variant (nonsense)	GMPPA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2432177	NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)	ASIC4-AS1, GMPPA (R134C)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 2432176	NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)	ASIC4-AS1, GMPPA (G302D)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 2421255	NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)	ASIC4-AS1, GMPPA (R349C)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 2417086	NM_013335.4(GMPPA):c.1173C>T (p.Val391=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2187906	NM_013335.4(GMPPA):c.117C>T (p.His39=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2185648	NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)	ASIC4-AS1, GMPPA (P291L)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 2143390	NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)	ASIC4-AS1, GMPPA (V347M)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 2143147	NM_013335.4(GMPPA):c.1089C>T (p.Asn363=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2082440	NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)	ASIC4-AS1, GMPPA (V353M)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 2066849	NM_013335.4(GMPPA):c.630A>T (p.Ser210=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2045529	NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)	ASIC4-AS1, GMPPA (M369V)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 2040070	NM_013335.4(GMPPA):c.621-9C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 2006163	NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)	ASIC4-AS1, GMPPA (L65F)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1963434	NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)	ASIC4-AS1, GMPPA (A367D)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1941356	NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)	ASIC4-AS1, GMPPA (R390*)	Single nucleotide variant (nonsense)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1938732	NM_013335.4(GMPPA):c.490-6C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 1896165	NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)	ASIC4-AS1, GMPPA (V156A)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1686640	NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)	ASIC4-AS1, GMPPA (W214fs)	Duplication (frameshift variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1670203	NM_013335.4(GMPPA):c.756-18C>A	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 1640660	NM_013335.4(GMPPA):c.486C>T (p.His162=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GLikely benign
Select item 1612001	NM_013335.4(GMPPA):c.490-16C>A	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 1604173	NM_013335.4(GMPPA):c.336G>A (p.Val112=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 1574900	NM_013335.4(GMPPA):c.783C>T (p.Tyr261=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 1542122	NM_013335.4(GMPPA):c.242+19G>A	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome	GBenign
Select item 1511740	NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr)	ASIC4-AS1, GMPPA (A293T)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1506317	NM_013335.4(GMPPA):c.12G>A (p.Ala4=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1488940	NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys)	ASIC4-AS1, GMPPA (G94C)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1442753	NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe)	ASIC4-AS1, GMPPA (I179F)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	PLCD4, PNKD +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 1430131	NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val)	ASIC4-AS1, GMPPA (A351V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1379954	NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys)	ASIC4-AS1, GMPPA (Q84K)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1338753	NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr)	ASIC4-AS1, GMPPA (S373T)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GPathogenic
Select item 1324485	NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter)	ASIC4-AS1, GMPPA (E128*)	Single nucleotide variant (nonsense)	Alacrima, achalasia, and intellectual disability syndrome	GLikely pathogenic
Select item 1285297	NM_013335.4(GMPPA):c.1162+37T>A	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GBenign
Select item 1236197	NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)	ASIC4-AS1, GMPPA (R366*)	Single nucleotide variant (nonsense)	Alacrima, achalasia, and intellectual disability syndrome	GPathogenic/Likely pathogenic
Select item 1140324	NM_013335.4(GMPPA):c.864C>T (p.Tyr288=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 1126938	NM_013335.4(GMPPA):c.516C>T (p.Ser172=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 1043141	NM_013335.4(GMPPA):c.466G>A (p.Val156Ile)	ASIC4-AS1, GMPPA (V156I)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1024634	NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val)	ASIC4-AS1, GMPPA (I384V)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 1007274	NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn)	ASIC4-AS1, GMPPA (D267N)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 969055	NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp)	ASIC4-AS1, GMPPA (R195W)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome +2 more	GUncertain significance
Select item 960828	NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp)	ASIC4-AS1, GMPPA (R320W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 864741	NM_013335.4(GMPPA):c.1046G>A (p.Arg349His)	ASIC4-AS1, GMPPA (R349H)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 851891	NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala)	ASIC4-AS1, GMPPA (T147A)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GUncertain significance
Select item 798216	NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn)	ASIC4-AS1, GMPPA (K379N)	Single nucleotide variant (missense variant)	GMPPA-related disorder +1 more	GLikely benign
Select item 786493	NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr)	ASIC4-AS1, GMPPA (A72T)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 779321	NM_013335.4(GMPPA):c.571T>C (p.Leu191=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 758519	NM_013335.4(GMPPA):c.138+9_138+10del	ASIC4-AS1, GMPPA	Deletion (intron variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 755531	NM_013335.4(GMPPA):c.495G>A (p.Leu165=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 747683	NM_013335.4(GMPPA):c.447C>T (p.Ser149=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 745193	NM_013335.4(GMPPA):c.66T>C (p.Phe22=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome	GLikely benign
Select item 682536	NM_013335.4(GMPPA):c.40+20G>A	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 583244	NM_013335.4(GMPPA):c.108G>C (p.Met36Ile)	GMPPA, ASIC4-AS1 (M36I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 513616	NM_013335.4(GMPPA):c.366C>G (p.Pro122=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 511929	NM_013335.4(GMPPA):c.876C>T (p.Thr292=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GLikely benign
Select item 507802	NM_013335.4(GMPPA):c.921C>T (p.Ile307=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +2 more	GLikely benign
Select item 507436	NM_013335.4(GMPPA):c.489+16G>A	GMPPA, ASIC4-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 474674	NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu)	ASIC4-AS1, GMPPA (F198L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 446258	NM_013335.4(GMPPA):c.853+1G>A	ASIC4-AS1, GMPPA	Single nucleotide variant (splice donor variant)	Alacrima, achalasia, and intellectual disability syndrome	GPathogenic
Select item 389994	NM_013335.4(GMPPA):c.40+13G>A	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GLikely benign
Select item 389477	NM_013335.4(GMPPA):c.750C>T (p.Ser250=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GLikely benign
Select item 388353	NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser)	ASIC4-AS1, GMPPA (P64S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 385576	NM_013335.4(GMPPA):c.858T>C (p.Asn286=)	GMPPA, ASIC4-AS1	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GLikely benign
Select item 385408	NM_013335.4(GMPPA):c.300C>T (p.Asp100=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 384226	NM_013335.4(GMPPA):c.756-10C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	GMPPA-related disorder +2 more	GLikely benign
Select item 382996	NM_013335.4(GMPPA):c.345T>C (p.Ala115=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GLikely benign
Select item 382390	NM_013335.4(GMPPA):c.40+15G>A	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome +2 more	GBenign/Likely benign
Select item 382083	NM_013335.4(GMPPA):c.213C>T (p.Ala71=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 380527	NM_013335.4(GMPPA):c.768C>T (p.Tyr256=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	GMPPA-related disorder +2 more	GBenign/Likely benign
Select item 380525	NM_013335.4(GMPPA):c.1162+18C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GBenign
Select item 380455	NM_013335.4(GMPPA):c.441G>A (p.Thr147=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +2 more	GBenign
Select item 380091	NM_013335.4(GMPPA):c.945G>A (p.Glu315=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GBenign
Select item 380034	NM_013335.4(GMPPA):c.1053C>G (p.Ala351=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 287078	NM_013335.4(GMPPA):c.486C>G (p.His162Gln)	ASIC4-AS1, GMPPA (H162Q)	Single nucleotide variant (missense variant)	GMPPA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 88695	NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter)	ASIC4-AS1, GMPPA	Single nucleotide variant (nonsense)	Alacrima, achalasia, and intellectual disability syndrome	GPathogenic
Select item 88694	NM_013335.4(GMPPA):c.210del (p.Ala71fs)	ASIC4-AS1, GMPPA (A71fs)	Deletion (frameshift variant)	Global developmental delay +2 more	GPathogenic
Select item 88693	NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)	ASIC4-AS1, GMPPA (G182D)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GPathogenic
Select item 88692	NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)	ASIC4-AS1, GMPPA (T334P)	Single nucleotide variant (missense variant)	Alacrima, achalasia, and intellectual disability syndrome	GPathogenic
Select item 88691	NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)	GMPPA, ASIC4-AS1 (R99*)	Single nucleotide variant (nonsense)	Alacrima, achalasia, and intellectual disability syndrome	GPathogenic

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Items: 86