GMPPA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 1292173	NC_000002.12:g.219498752G>T	ASIC4-AS1, GMPPA	Single nucleotide variant	not provided	GBenign
Select item 1224152	NC_000002.12:g.219498766A>G	ASIC4-AS1, GMPPA	Single nucleotide variant	not provided	GBenign
Select item 380067	NM_013335.4(GMPPA):c.-21+298T>C	GMPPA, ASIC4-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 514269	NM_013335.4(GMPPA):c.-21+303T>C	ASIC4-AS1, GMPPA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1224557	NM_013335.4(GMPPA):c.-20-215_-20-209del	ASIC4-AS1, GMPPA	Deletion (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 2682820	NM_013335.4(GMPPA):c.138+1G>T	ASIC4-AS1, GMPPA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 392491	NM_013335.4(GMPPA):c.138+8C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not specified	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 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 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 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 88694	NM_013335.4(GMPPA):c.210del (p.Ala71fs)	ASIC4-AS1, GMPPA (A71fs)	Deletion (frameshift variant)	Global developmental delay +2 more	GPathogenic
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 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 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 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 1329671	NM_013335.4(GMPPA):c.242+25G>C	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	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 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 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 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
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 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 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 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 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 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 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 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 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 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 1220147	NM_013335.4(GMPPA):c.429+114C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257159	NM_013335.4(GMPPA):c.430-151G>C	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GBenign
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 1326050	NM_013335.4(GMPPA):c.430-36A>G	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 1640660	NM_013335.4(GMPPA):c.486C>T (p.His162=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	GMPPA-related condition +1 more	GLikely benign
Select item 287078	NM_013335.4(GMPPA):c.486C>G (p.His162Gln)	GMPPA, ASIC4-AS1 (H162Q)	Single nucleotide variant (missense variant)	GMPPA-related condition +3 more	GConflicting classifications of pathogenicity
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 2254424	NM_013335.4(GMPPA):c.489+4A>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 755531	NM_013335.4(GMPPA):c.495G>A (p.Leu165=)	GMPPA, ASIC4-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 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 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 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 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 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 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 2635320	NM_013335.4(GMPPA):c.595C>T (p.Gln199Ter)	ASIC4-AS1, GMPPA (Q199*)	Single nucleotide variant (nonsense)	GMPPA-related condition	GLikely pathogenic
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 1289464	NM_013335.4(GMPPA):c.620+65G>A	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236436	NM_013335.4(GMPPA):c.620+285A>G	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 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 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 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 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 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 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 384226	NM_013335.4(GMPPA):c.756-10C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 380527	NM_013335.4(GMPPA):c.768C>T (p.Tyr256=)	GMPPA, ASIC4-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely 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 2629420	NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)	ASIC4-AS1, GMPPA (R264*)	Single nucleotide variant (nonsense)	GMPPA-related condition +1 more	GPathogenic/Likely pathogenic
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 386933	NM_013335.4(GMPPA):c.816G>A (p.Arg272=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 513493	NM_013335.4(GMPPA):c.853+18A>G	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 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 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

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