"GeneDx"[submitter] AND "GAD1"[gene] - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 60252	GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1	ERICH2, ERICH2-DT +27 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 152844	GRCh38/hg38 2q31.1(chr2:170800982-170918434)x3	GAD1, LOC122847314 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1233523	NM_000817.3(GAD1):c.-63-343T>C	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232558	NM_000817.3(GAD1):c.82+198A>G	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233820	NM_000817.3(GAD1):c.83-218C>T	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 332226	NM_000817.3(GAD1):c.111T>C (p.His37=)	GAD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1706356	NM_000817.3(GAD1):c.184C>T (p.Arg62Cys)	GAD1 (R62C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1251721	NM_000817.3(GAD1):c.304+185T>G	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230108	NM_000817.3(GAD1):c.638+62A>C	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295228	NM_000817.3(GAD1):c.638+246C>G	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269663	NM_000817.3(GAD1):c.639-1156T>A	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268332	NM_000817.3(GAD1):c.639-196C>T	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264917	NM_000817.3(GAD1):c.751+62G>A	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232662	NM_000817.3(GAD1):c.751+269del	GAD1	Deletion (intron variant)	not provided	GBenign
Select item 1277575	NM_000817.3(GAD1):c.752-252C>G	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260220	NM_000817.3(GAD1):c.948-39C>T	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 332234	NM_000817.3(GAD1):c.1002+12G>A	GAD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273907	NM_000817.3(GAD1):c.1119+217C>T	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290809	NM_000817.3(GAD1):c.1185-240T>C	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265514	NM_000817.3(GAD1):c.1263+128A>G	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237492	NM_000817.3(GAD1):c.1263+219G>A	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 332239	NM_000817.3(GAD1):c.1450C>T (p.Leu484=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GBenign
Select item 1293424	NM_000817.3(GAD1):c.1522-181C>G	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 332241	NM_000817.3(GAD1):c.1595G>A (p.Arg532Gln)	GAD1 (R532Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GBenign
Select item 1291484	NM_000817.3(GAD1):c.1612-99A>G	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 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: 28