"GeneDx"[submitter] AND "AHNAK2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 1261767	NM_138420.4(AHNAK2):c.13473A>G (p.Pro4491=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 402349	NM_138420.4(AHNAK2):c.9650T>C (p.Leu3217Pro)	AHNAK2 (L3217P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1269124	NM_138420.4(AHNAK2):c.8584C>A (p.Arg2862Ser)	AHNAK2 (R2762S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1296970	NM_138420.4(AHNAK2):c.8565T>C (p.Asp2855=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1259483	NM_138420.4(AHNAK2):c.8470G>A (p.Gly2824Arg)	AHNAK2 (G2724R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1225822	NM_138420.4(AHNAK2):c.8463G>A (p.Pro2821=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1278994	NM_138420.4(AHNAK2):c.7411G>C (p.Val2471Leu)	AHNAK2 (V2371L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 254021	GRCh37/hg19 14q32.33(chr14:105393054-105996538)x1	TEDC1, CDCA4 +14 more	Copy number loss	See cases	GUncertain significance
Select item 253728	GRCh37/hg19 14q32.33(chr14:105259639-105523673)x1	CDCA4, ZBTB42 +6 more	Copy number loss	See cases	GUncertain significance