"GeneDx"[submitter] AND "CAMK4"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 3367593	NM_001744.6(CAMK4):c.145G>A (p.Glu49Lys)	CAMK4 (E49K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 144884	GRCh38/hg38 5q22.1(chr5:111240313-111317511)x1	CAMK4, LOC129994354 +5 more	Copy number loss	See cases	GBenign
Select item 3368120	NM_001744.6(CAMK4):c.188G>A (p.Cys63Tyr)	CAMK4 (C63Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369915	NM_001744.6(CAMK4):c.415C>T (p.Arg139Ter)	CAMK4 (R139*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1801165	NM_001744.6(CAMK4):c.850G>A (p.Asp284Asn)	CAMK4 (D284N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370894	NM_001744.6(CAMK4):c.902C>T (p.Thr301Ile)	CAMK4 (T104I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507053	NM_001744.6(CAMK4):c.929T>C (p.Met310Thr)	CAMK4 (M113T +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 253705	GRCh37/hg19 5q21.3-22.1(chr5:109438167-110644401)x3	WDR36, CAMK4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3361146	NM_001744.6(CAMK4):c.971G>A (p.Arg324His)	CAMK4 (R127H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360707	NM_001744.6(CAMK4):c.536C>T (p.Ala179Val)	CAMK4 (A179V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance