"Ambry Genetics"[submitter] AND "NDP"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 588627	NM_000266.4(NDP):c.*14G>A	NDP-AS1, NDP	Single nucleotide variant (non-coding transcript variant +1 more)	History of neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1109160	NM_000266.4(NDP):c.336G>A (p.Gly112=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1414252	NM_000266.4(NDP):c.326G>A (p.Arg109Gln)	NDP, NDP-AS1 (R109Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1474690	NM_000266.4(NDP):c.274T>A (p.Ser92Thr)	NDP, NDP-AS1 (S92T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985284	NM_000266.4(NDP):c.258G>T (p.Lys86Asn)	NDP, NDP-AS1 (K86N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588804	NM_000266.4(NDP):c.101C>T (p.Ser34Leu)	NDP, NDP-AS1 (S34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1042193	NM_000266.4(NDP):c.92T>A (p.Ile31Lys)	NDP, NDP-AS1 (I31K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 289799	NM_000266.4(NDP):c.69C>G (p.Asp23Glu)	NDP, NDP-AS1 (D23E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1427641	NM_000266.4(NDP):c.62A>G (p.Asp21Gly)	NDP, NDP-AS1 (D21G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance