ClinVar for Gene (Select 29926) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281725	NM_013335.4(GMPPA):c.176A>G (p.Tyr59Cys)	ASIC4-AS1, GMPPA (Y59C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281724	NM_013335.4(GMPPA):c.996G>C (p.Glu332Asp)	ASIC4-AS1, GMPPA (E332D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281723	NM_013335.4(GMPPA):c.224A>C (p.Glu75Ala)	ASIC4-AS1, GMPPA (E75A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281721	NM_013335.4(GMPPA):c.807C>G (p.His269Gln)	ASIC4-AS1, GMPPA (H269Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3100518	NM_013335.4(GMPPA):c.959G>A (p.Arg320Gln)	ASIC4-AS1, GMPPA (R320Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100517	NM_013335.4(GMPPA):c.941G>T (p.Gly314Val)	ASIC4-AS1, GMPPA (G314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100516	NM_013335.4(GMPPA):c.598C>T (p.Arg200Cys)	ASIC4-AS1, GMPPA (R200C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100515	NM_013335.4(GMPPA):c.479A>G (p.Gln160Arg)	ASIC4-AS1, GMPPA (Q160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100514	NM_013335.4(GMPPA):c.401G>A (p.Arg134His)	ASIC4-AS1, GMPPA (R134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100513	NM_013335.4(GMPPA):c.392G>A (p.Arg131Gln)	ASIC4-AS1, GMPPA (R131Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100512	NM_013335.4(GMPPA):c.201G>T (p.Gln67His)	ASIC4-AS1, GMPPA (Q67H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100511	NM_013335.4(GMPPA):c.1094C>T (p.Pro365Leu)	ASIC4-AS1, GMPPA (P365L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2685878	GRCh37/hg19 2q35(chr2:220368252-221475943)x3	ASIC4, CHPF +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685877	GRCh37/hg19 2q35(chr2:220169575-220625221)x3	ASIC4, CHPF +11 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2682820	NM_013335.4(GMPPA):c.138+1G>T	ASIC4-AS1, GMPPA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2664651	NM_013335.4(GMPPA):c.429+1G>A	ASIC4-AS1, GMPPA	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2651932	NM_013335.4(GMPPA):c.969C>T (p.Ile323=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635320	NM_013335.4(GMPPA):c.595C>T (p.Gln199Ter)	ASIC4-AS1, GMPPA (Q199*)	Single nucleotide variant (nonsense)	GMPPA-related disorder	GLikely pathogenic
Select item 2629420	NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)	ASIC4-AS1, GMPPA (R264*)	Single nucleotide variant (nonsense)	Alacrima, achalasia, and intellectual disability syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2627231	NM_013335.4(GMPPA):c.1001C>T (p.Thr334Met)	ASIC4-AS1, GMPPA (T334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622917	NM_013335.4(GMPPA):c.1208T>C (p.Ile403Thr)	ASIC4-AS1, GMPPA (I403T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2564070	NM_013335.4(GMPPA):c.386C>A (p.Ala129Asp)	ASIC4-AS1, GMPPA (A129D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485175	NM_013335.4(GMPPA):c.133G>A (p.Ala45Thr)	ASIC4-AS1, GMPPA (A45T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469984	NM_013335.4(GMPPA):c.334G>A (p.Val112Met)	ASIC4-AS1, GMPPA (V112M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases +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 2379212	NM_013335.4(GMPPA):c.46C>T (p.Arg16Cys)	ASIC4-AS1, GMPPA (R16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344489	NM_013335.4(GMPPA):c.893C>T (p.Ser298Leu)	ASIC4-AS1, GMPPA (S298L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257415	NM_013335.4(GMPPA):c.231C>A (p.Asn77Lys)	ASIC4-AS1, GMPPA (N77K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254424	NM_013335.4(GMPPA):c.489+4A>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2230886	NM_013335.4(GMPPA):c.489+3G>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2209971	NM_013335.4(GMPPA):c.1156A>G (p.Ile386Val)	ASIC4-AS1, GMPPA (I386V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases +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 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1686640	NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)	ASIC4-AS1, GMPPA (W214fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1684137	NM_013335.4(GMPPA):c.874A>C (p.Thr292Pro)	ASIC4-AS1, GMPPA (T292P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683941	NM_013335.4(GMPPA):c.854-23C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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	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 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
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	SPEG, TMEM198 +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 1329671	NM_013335.4(GMPPA):c.242+25G>C	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326050	NM_013335.4(GMPPA):c.430-36A>G	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1308617	NM_013335.4(GMPPA):c.900+4A>G	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1308616	NM_013335.4(GMPPA):c.953G>A (p.Arg318Gln)	ASIC4-AS1, GMPPA (R318Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292173	NC_000002.12:g.219498752G>T	ASIC4-AS1, GMPPA	Single nucleotide variant	not provided	GBenign
Select item 1289464	NM_013335.4(GMPPA):c.620+65G>A	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GBenign
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 1267368	NM_013335.4(GMPPA):c.901-103G>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267065	NM_013335.4(GMPPA):c.621-196C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257159	NM_013335.4(GMPPA):c.430-151G>C	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253865	NC_000002.12:g.219507034A>C	ASIC4-AS1, GMPPA	Single nucleotide variant	not provided	GLikely benign
Select item 1236436	NM_013335.4(GMPPA):c.620+285A>G	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	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 1224557	NM_013335.4(GMPPA):c.-20-215_-20-209del	ASIC4-AS1, GMPPA	Deletion (intron variant)	not provided	GBenign
Select item 1224152	NC_000002.12:g.219498766A>G	ASIC4-AS1, GMPPA	Single nucleotide variant	not provided	GBenign
Select item 1220147	NM_013335.4(GMPPA):c.429+114C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212046	NM_013335.4(GMPPA):c.430-78C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195380	NM_013335.4(GMPPA):c.994-70A>G	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
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

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