"GeneDx"[submitter] AND "GMPPA"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	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	ASIC4-AS1, GMPPA	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 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 392491	NM_013335.4(GMPPA):c.138+8C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 388353	NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser)	ASIC4-AS1, GMPPA (P64S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 88694	NM_013335.4(GMPPA):c.210del (p.Ala71fs)	GMPPA, ASIC4-AS1 (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)	not specified +2 more	GBenign/Likely benign
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 385408	NM_013335.4(GMPPA):c.300C>T (p.Asp100=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +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 513616	NM_013335.4(GMPPA):c.366C>G (p.Pro122=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 380455	NM_013335.4(GMPPA):c.441G>A (p.Thr147=)	GMPPA, ASIC4-AS1	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +2 more	GBenign
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 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 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 384226	NM_013335.4(GMPPA):c.756-10C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 380527	NM_013335.4(GMPPA):c.768C>T (p.Tyr256=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GBenign/Likely benign
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 386933	NM_013335.4(GMPPA):c.816G>A (p.Arg272=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	Alacrima, achalasia, and intellectual disability syndrome +1 more	GLikely benign
Select item 511695	NM_013335.4(GMPPA):c.873G>A (p.Pro291=)	GMPPA, ASIC4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 682213	NM_013335.4(GMPPA):c.894G>A (p.Ser298=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1267368	NM_013335.4(GMPPA):c.901-103G>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507879	NM_013335.4(GMPPA):c.901-10C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 507802	NM_013335.4(GMPPA):c.921C>T (p.Ile307=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 +2 more	GBenign
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 1195380	NM_013335.4(GMPPA):c.994-70A>G	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380034	NM_013335.4(GMPPA):c.1053C>G (p.Ala351=)	GMPPA, ASIC4-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 380525	NM_013335.4(GMPPA):c.1162+18C>T	ASIC4-AS1, GMPPA	Single nucleotide variant (intron variant)	not specified +2 more	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 385433	NM_013335.4(GMPPA):c.1206G>T (p.Ser402=)	ASIC4-AS1, GMPPA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1253865	NC_000002.12:g.219507034A>C	ASIC4-AS1, GMPPA	Single nucleotide variant	not provided	GLikely benign

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Items: 50