"GeneDx"[submitter] AND "SPAG8"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499814	NM_003995.4(NPR2):c.2123A>G (p.Tyr708Cys)	NPR2, SPAG8 (Y708C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1282017	NM_003995.4(NPR2):c.2713-172C>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449721	NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter)	NPR2, SPAG8 (R921* +1 more)	Single nucleotide variant (nonsense +1 more)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GPathogenic
Select item 432688	NM_003995.4(NPR2):c.2833C>G (p.Arg945Gly)	NPR2, SPAG8 (R945G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423652	NM_003995.4(NPR2):c.2882A>T (p.His961Leu)	SPAG8, NPR2 (H961L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364220	NM_003995.4(NPR2):c.2888G>A (p.Gly963Glu)	NPR2, SPAG8 (G963E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314814	NM_003995.4(NPR2):c.2923C>A (p.Pro975Thr)	NPR2, SPAG8 (P975T +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 418389	NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)	NPR2, SPAG8 (R989L +1 more)	Single nucleotide variant (missense variant +1 more)	NPR2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1723578	NM_003995.4(NPR2):c.2980G>A (p.Gly994Ser)	NPR2, SPAG8 (G994S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340206	NM_003995.4(NPR2):c.3058C>T (p.Arg1020Trp)	NPR2, SPAG8 (R1020W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1250991	NM_003995.4(NPR2):c.3079-49A>G	SPAG8, NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic