GDA[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59107	GRCh38/hg38 9q21.13(chr9:72023067-72497412)x1	C9orf57, GDA +11 more	Copy number loss	See cases	GPathogenic
Select item 2512001	NM_004293.5(GDA):c.185C>T (p.Pro62Leu)	GDA (P20L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543402	NM_004293.5(GDA):c.424T>G (p.Phe142Val)	GDA (F142V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099184	NM_004293.5(GDA):c.457C>T (p.Leu153Phe)	GDA (L111F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370203	NM_004293.5(GDA):c.505G>C (p.Val169Leu)	GDA (V127L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409307	NM_004293.5(GDA):c.527C>T (p.Thr176Ile)	GDA (T102I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559436	NM_004293.5(GDA):c.683A>G (p.Asn228Ser)	GDA (N186S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2364613	NM_004293.5(GDA):c.686T>C (p.Ile229Thr)	GDA (I229T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406165	NM_004293.5(GDA):c.697C>T (p.Arg233Cys)	GDA (R159C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 3099185	NM_004293.5(GDA):c.721A>G (p.Ile241Val)	GDA (I199V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321924	NM_004293.5(GDA):c.782A>G (p.Tyr261Cys)	GDA (Y261C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480528	NM_004293.5(GDA):c.867C>A (p.Asn289Lys)	GDA (N215K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596873	NM_004293.5(GDA):c.908A>G (p.Asn303Ser)	GDA (N229S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099186	NM_004293.5(GDA):c.972G>C (p.Lys324Asn)	GDA (K282N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338646	NM_004293.5(GDA):c.991G>C (p.Val331Leu)	GDA (V257L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544979	NM_004293.5(GDA):c.1003T>C (p.Tyr335His)	GDA (Y261H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394098	NM_004293.5(GDA):c.1004A>G (p.Tyr335Cys)	GDA (Y261C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620924	NM_004293.5(GDA):c.1142G>A (p.Gly381Glu)	GDA (G381E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240929	NM_004293.5(GDA):c.1151G>T (p.Gly384Val)	GDA (G342V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399030	NM_004293.5(GDA):c.1216G>A (p.Asp406Asn)	GDA (D406N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099183	NM_004293.5(GDA):c.1330G>A (p.Gly444Arg)	GDA (G402R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1809319	GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3	ABHD17B, ALDH1A1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527523	GRCh37/hg19 9q21.12-21.13(chr9:73201718-75071682)	ABHD17B, C9orf57 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 979262	GRCh37/hg19 9q21.13(chr9:74173350-75170163)x1	ZFAND5, C9orf85 +5 more	Copy number loss	not provided	GUncertain significance
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 563676	GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1	ALDH1A1, ANXA1 +24 more	Copy number loss	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 443719	GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1	ABHD17B, ALDH1A1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 442687	GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3	ABHD17B, ALDH1A1 +50 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	TRMT10B, TRPM3 +274 more	Copy number gain	See cases	GPathogenic
Select item 442318	GRCh37/hg19 9q21.12-21.13(chr9:73925485-75008609)x4	ABHD17B, C9orf57 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63