"GeneDx"[submitter] AND "CNNM4"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 1276457	NC_000002.12:g.96760804G>A	CNNM4	Single nucleotide variant	not provided	GBenign
Select item 1304369	NM_020184.4(CNNM4):c.482T>C (p.Leu161Pro)	CNNM4 (L161P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242212	NM_020184.4(CNNM4):c.1402+182G>A	CNNM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273440	NM_020184.4(CNNM4):c.1546+136C>G	CNNM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267557	NM_020184.4(CNNM4):c.1547-155T>C	CNNM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239855	NM_020184.4(CNNM4):c.1681+145G>A	CNNM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2084124	NM_020184.4(CNNM4):c.1813C>T (p.Arg605Ter)	CNNM4 (R605*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 337588	NM_020184.4(CNNM4):c.1824G>A (p.Pro608=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +1 more	GBenign
Select item 2852	NM_020184.4(CNNM4):c.2149C>T (p.Gln717Ter)	CNNM4 (Q717*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 337594	NM_020184.4(CNNM4):c.2255T>G (p.Val752Gly)	CNNM4 (V752G)	Single nucleotide variant (missense variant)	Jalili syndrome +2 more	GUncertain significance
Select item 337595	NM_020184.4(CNNM4):c.*91C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome +1 more	GBenign