"GeneDx"[submitter] AND "KAAG1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151607	GRCh38/hg38 6p22.3(chr6:24281919-24479832)x1	DCDC2, GPLD1 +5 more	Copy number loss	See cases	GUncertain significance
Select item 683196	NM_016356.5(DCDC2):c.293+79C>T	DCDC2, KAAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313436	NM_016356.5(DCDC2):c.247G>C (p.Gly83Arg)	DCDC2, KAAG1 (G83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312394	NM_016356.5(DCDC2):c.232G>C (p.Asp78His)	DCDC2, KAAG1 (D78H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502350	NM_016356.5(DCDC2):c.222C>A (p.Ile74=)	DCDC2, KAAG1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 466323	NM_016356.5(DCDC2):c.183C>T (p.Ala61=)	DCDC2, KAAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GBenign
Select item 3375847	NM_016356.5(DCDC2):c.145A>C (p.Lys49Gln)	DCDC2, KAAG1 (K49Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 575006	NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu)	DCDC2, KAAG1 (R23L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1205790	NM_016356.5(DCDC2):c.45C>A (p.Val15=)	DCDC2, KAAG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1190269	NM_016356.5(DCDC2):c.-24C>T	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1188454	NM_016356.5(DCDC2):c.-89C>A	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1191807	NM_016356.5(DCDC2):c.-192T>C	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1240698	NM_016356.5(DCDC2):c.-224C>T	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1281613	NM_016356.5(DCDC2):c.-285C>T	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1255344	NM_001195610.2(DCDC2):c.-97-408C>G	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign