"Ambry Genetics"[submitter] AND "LOC105372281"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2456495	NM_001270441.2(RTBDN):c.629G>C (p.Arg210Pro)	LOC105372281, LOC117125585 +1 more (R242P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282109	NM_001270441.2(RTBDN):c.566T>G (p.Val189Gly)	LOC105372281, LOC117125585 +1 more (V183G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156796	NM_001270441.2(RTBDN):c.509C>T (p.Ala170Val)	LOC105372281, LOC117125585 +1 more (A164V +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3156795	NM_001270441.2(RTBDN):c.475G>C (p.Gly159Arg)	LOC105372281, LOC117125585 +1 more (G153R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156794	NM_001270441.2(RTBDN):c.424A>G (p.Lys142Glu)	LOC105372281, RTBDN (K148E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2335961	NM_001270441.2(RTBDN):c.415C>T (p.Leu139Phe)	LOC105372281, RTBDN (L133F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156793	NM_001270441.2(RTBDN):c.401C>A (p.Pro134Gln)	LOC105372281, RTBDN (P166Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2246618	NM_001270441.2(RTBDN):c.386A>G (p.Asp129Gly)	LOC105372281, RTBDN (D129G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386910	NM_001270441.2(RTBDN):c.374A>G (p.Asn125Ser)	LOC105372281, RTBDN (N157S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156792	NM_001270441.2(RTBDN):c.353T>C (p.Leu118Pro)	LOC105372281, LOC130063669 +1 more (L118P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156791	NM_001270441.2(RTBDN):c.329A>G (p.Gln110Arg)	LOC105372281, RTBDN (Q116R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257873	NM_001270441.2(RTBDN):c.325C>T (p.Arg109Cys)	LOC105372281, RTBDN (R141C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609214	NM_001270441.2(RTBDN):c.310C>T (p.Arg104Trp)	LOC105372281, RTBDN (R136W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216000	NM_001270441.2(RTBDN):c.287C>T (p.Ala96Val)	LOC105372281, RTBDN (A102V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546671	NM_001270441.2(RTBDN):c.271G>C (p.Glu91Gln)	LOC105372281, RTBDN (E97Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156790	NM_001270441.2(RTBDN):c.191T>G (p.Met64Arg)	LOC105372281, RTBDN (M64R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268866	NM_001270441.2(RTBDN):c.155A>T (p.Lys52Met)	LOC105372281, RTBDN (K52M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543177	NM_001270441.2(RTBDN):c.101T>A (p.Leu34His)	LOC105372281, RTBDN (L40H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250046	NM_001270441.2(RTBDN):c.95G>A (p.Arg32His)	LOC105372281, RTBDN (R32H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156789	NM_001270441.2(RTBDN):c.12G>T (p.Arg4Ser)	LOC105372281, RTBDN (R4S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20