"NAXD-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1165481	NM_001242882.2(NAXD):c.46+66C>T	NAXD, NAXD-AS1	Single nucleotide variant (synonymous variant +1 more)	NAXD-related disorder +1 more	GBenign
Select item 1657361	NM_001242882.2(NAXD):c.46+69G>C	NAXD, NAXD-AS1	Single nucleotide variant (synonymous variant +1 more)	NAXD-related disorder +1 more	GBenign/Likely benign
Select item 617759	NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)	NAXD (A20fs +1 more)	Deletion (frameshift variant +2 more)	NAXD-related disorder +2 more	GPathogenic
Select item 1635825	NM_001242882.2(NAXD):c.60G>A (p.Ala20=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	NAXD-related disorder +1 more	GBenign/Likely benign
Select item 3029580	NM_001242882.2(NAXD):c.69A>G (p.Leu23=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	NAXD-related disorder	GLikely benign
Select item 1644883	NM_001242882.2(NAXD):c.102T>A (p.Asn34Lys)	NAXD (N34K +1 more)	Single nucleotide variant (missense variant +2 more)	NAXD-related disorder +2 more	GBenign/Likely benign
Select item 1670248	NM_001242882.2(NAXD):c.141T>C (p.Ser47=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	NAXD-related disorder +1 more	GBenign/Likely benign
Select item 3055073	NM_001242882.2(NAXD):c.303C>T (p.Tyr101=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	NAXD-related disorder	GLikely benign
Select item 1165626	NM_001242882.2(NAXD):c.364A>G (p.Lys122Glu)	NAXD (K122E +2 more)	Single nucleotide variant (missense variant +1 more)	NAXD-related disorder +1 more	GBenign
Select item 1169630	NM_001242882.2(NAXD):c.391G>A (p.Val131Ile)	NAXD (V131I +2 more)	Single nucleotide variant (missense variant +1 more)	NAXD-related disorder +1 more	GBenign
Select item 1542921	NM_001242882.2(NAXD):c.471C>T (p.Asp157=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	NAXD-related disorder +1 more	GBenign/Likely benign
Select item 1170922	NM_001242882.2(NAXD):c.489C>T (p.Asp163=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1655715	NM_001242882.2(NAXD):c.522G>A (p.Pro174=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	NAXD-related disorder +1 more	GLikely benign
Select item 1166488	NM_001242882.2(NAXD):c.541C>T (p.Arg181Trp)	NAXD (R181W +2 more)	Single nucleotide variant (missense variant +1 more)	NAXD-related disorder +1 more	GBenign/Likely benign
Select item 3052579	NM_001242882.2(NAXD):c.591C>T (p.Asp197=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	NAXD-related disorder	GLikely benign
Select item 1164878	NM_001242882.2(NAXD):c.708C>T (p.Asn236=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	NAXD-related disorder +1 more	GBenign
Select item 1165146	NM_001242882.2(NAXD):c.840-58C>T	NAXD	Single nucleotide variant (synonymous variant +1 more)	NAXD-related disorder +2 more	GBenign/Likely benign
Select item 2057894	NM_001242882.2(NAXD):c.840-40G>A	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1597194	NM_001242882.2(NAXD):c.918C>T (p.His306=)	NAXD (R370W)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1587644	NM_001242882.2(NAXD):c.939C>T (p.Ser313=)	NAXD (R377*)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign

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Items: 20