"Ambry Genetics"[submitter] AND "RO60"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2488792	NM_001173524.2(RO60):c.24G>A (p.Met8Ile)	RO60 (M8I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155580	NM_001173524.2(RO60):c.85G>C (p.Asp29His)	RO60 (D29H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155581	NM_001173524.2(RO60):c.86A>T (p.Asp29Val)	RO60 (D29V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155566	NM_001173524.2(RO60):c.134C>T (p.Thr45Ile)	RO60 (T45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155572	NM_001173524.2(RO60):c.157T>A (p.Leu53Met)	RO60 (L53M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314974	NM_001173524.2(RO60):c.268G>C (p.Glu90Gln)	RO60 (E90Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155573	NM_001173524.2(RO60):c.310G>A (p.Asp104Asn)	RO60 (D104N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478758	NM_001173524.2(RO60):c.373C>G (p.Leu125Val)	RO60 (L125V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543138	NM_001173524.2(RO60):c.402T>G (p.Asp134Glu)	RO60 (D134E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314972	NM_001173524.2(RO60):c.562C>A (p.Leu188Ile)	RO60 (L188I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155574	NM_001173524.2(RO60):c.568C>G (p.Pro190Ala)	RO60 (P190A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314973	NM_001173524.2(RO60):c.571T>G (p.Ser191Ala)	RO60 (S191A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593944	NM_001173524.2(RO60):c.589A>G (p.Ile197Val)	RO60 (I197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314978	NM_001173524.2(RO60):c.610A>G (p.Lys204Glu)	RO60 (K204E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155575	NM_001173524.2(RO60):c.644A>C (p.Glu215Ala)	RO60 (E215A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155577	NM_001173524.2(RO60):c.710G>T (p.Arg237Leu)	RO60 (R237L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155578	NM_001173524.2(RO60):c.746A>G (p.Glu249Gly)	RO60 (E249G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560840	NM_001173524.2(RO60):c.759A>C (p.Leu253Phe)	RO60 (L253F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314976	NM_001173524.2(RO60):c.781A>C (p.Asn261His)	RO60 (N261H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511705	NM_001173524.2(RO60):c.830C>T (p.Pro277Leu)	RO60 (P277L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155579	NM_001173524.2(RO60):c.836C>G (p.Thr279Ser)	RO60 (T279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553732	NM_001173524.2(RO60):c.880C>T (p.Leu294Phe)	RO60 (L294F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155582	NM_001173524.2(RO60):c.953G>A (p.Arg318His)	RO60 (R318H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155561	NM_001173524.2(RO60):c.1007G>A (p.Gly336Asp)	RO60 (G336D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639671	NM_001173524.2(RO60):c.1030C>T (p.Arg344Cys)	RO60 (R344C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3314977	NM_001173524.2(RO60):c.1117C>A (p.Leu373Ile)	RO60 (L98I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155562	NM_001173524.2(RO60):c.1214G>T (p.Arg405Leu)	RO60 (R405L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155563	NM_001173524.2(RO60):c.1256T>C (p.Met419Thr)	RO60 (M144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155564	NM_001173524.2(RO60):c.1258G>C (p.Val420Leu)	RO60 (V145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155565	NM_001173524.2(RO60):c.1343C>G (p.Ser448Cys)	RO60 (S173C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483973	NM_001173524.2(RO60):c.1379C>T (p.Pro460Leu)	RO60 (P460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155567	NM_001173524.2(RO60):c.1382C>T (p.Ala461Val)	RO60 (A461V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155568	NM_001173524.2(RO60):c.1403C>T (p.Thr468Ile)	RO60 (T193I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314975	NM_001173524.2(RO60):c.1411G>A (p.Glu471Lys)	RO60 (E196K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314979	NM_001173524.2(RO60):c.1433A>G (p.His478Arg)	RO60 (H478R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155569	NM_001173524.2(RO60):c.1439C>T (p.Ala480Val)	RO60 (A480V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155570	NM_001173524.2(RO60):c.1492G>C (p.Val498Leu)	RO60 (V498L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155571	NM_001173524.2(RO60):c.1561G>A (p.Gly521Ser)	RO60 (G246S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38