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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 1315842	NM_000815.5(GABRD):c.-4G>A	GABRD	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3366225	NM_000815.5(GABRD):c.277C>G (p.Gln93Glu)	GABRD (Q93E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501360	NM_000815.5(GABRD):c.492C>A (p.Cys164Ter)	GABRD (C164*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1698114	NM_000815.5(GABRD):c.569A>C (p.Glu190Ala)	GABRD (E190A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412913	NM_000815.5(GABRD):c.635C>T (p.Ala212Val)	GABRD (A212V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2663710	NM_000815.5(GABRD):c.692-11T>A	GABRD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1320810	NM_000815.5(GABRD):c.692-10G>A	GABRD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2908142	NM_000815.5(GABRD):c.758A>T (p.Gln253Leu)	GABRD (Q253L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2499744	NM_000815.5(GABRD):c.813C>G (p.Ile271Met)	GABRD (I271M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256825	NM_000815.5(GABRD):c.816C>T (p.Ser272=)	GABRD	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1683926	NM_000815.5(GABRD):c.817C>T (p.Gln273Ter)	GABRD (Q273*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2571890	NM_000815.5(GABRD):c.958T>G (p.Phe320Val)	GABRD (F320V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373647	NM_000815.5(GABRD):c.976G>C (p.Val326Leu)	GABRD (V326L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571985	NM_000815.5(GABRD):c.1085T>A (p.Leu362His)	GABRD (L362H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711900	NM_000815.5(GABRD):c.1216del (p.Ala406fs)	GABRD (A406fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2444801	NM_000815.5(GABRD):c.1339T>G (p.Trp447Gly)	GABRD (W447G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253727	GRCh37/hg19 1p36.33(chr1:1770754-1989014)x3	CALML6, CFAP74 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253365	GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4	SLC35E2B, CALML6 +23 more	Copy number gain	See cases	GLikely pathogenic

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Items: 25