"Ambry Genetics"[submitter] AND "RUSC1"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2319478	NM_001105203.2(RUSC1):c.340C>G (p.Pro114Ala)	RUSC1, RUSC1-AS1 (P114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403006	NM_001105203.2(RUSC1):c.1384G>A (p.Val462Ile)	LOC129931568, RUSC1 (V52I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510827	NM_001105203.2(RUSC1):c.1387C>G (p.Pro463Ala)	LOC129931568, RUSC1 (P463A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157213	NM_001105203.2(RUSC1):c.1388C>T (p.Pro463Leu)	LOC129931568, RUSC1 (P463L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339439	NM_001105203.2(RUSC1):c.1390G>A (p.Gly464Arg)	LOC129931568, RUSC1 (G464R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594865	NM_001105203.2(RUSC1):c.1425T>G (p.Ser475Arg)	LOC129931568, RUSC1 (S65R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550722	NM_001105203.2(RUSC1):c.1489A>G (p.Lys497Glu)	RUSC1 (K87E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157214	NM_001105203.2(RUSC1):c.1497C>G (p.Ile499Met)	RUSC1 (I30M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569852	NM_001105203.2(RUSC1):c.1516C>T (p.Arg506Trp)	RUSC1 (R96W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254286	NM_001105203.2(RUSC1):c.1530G>C (p.Gln510His)	RUSC1 (Q100H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315812	NM_001105203.2(RUSC1):c.1532A>G (p.Lys511Arg)	RUSC1 (K511R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237296	NM_001105203.2(RUSC1):c.1542G>T (p.Leu514Phe)	RUSC1 (L39F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352424	NM_001105203.2(RUSC1):c.1619C>T (p.Ala540Val)	RUSC1 (A540V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311244	NM_001105203.2(RUSC1):c.1674C>G (p.Ser558Arg)	RUSC1 (S56R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488163	NM_001105203.2(RUSC1):c.1753C>T (p.Arg585Cys)	RUSC1 (R116C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157216	NM_001105203.2(RUSC1):c.1756C>G (p.Leu586Val)	RUSC1 (L176V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619886	NM_001105203.2(RUSC1):c.1956G>C (p.Gln652His)	RUSC1 (Q242H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349506	NM_001105203.2(RUSC1):c.2038G>A (p.Ala680Thr)	RUSC1 (A211T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315811	NM_001105203.2(RUSC1):c.2101C>T (p.Arg701Trp)	RUSC1 (R232W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607122	NM_001105203.2(RUSC1):c.2123G>T (p.Gly708Val)	RUSC1 (G239V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157217	NM_001105203.2(RUSC1):c.2137G>C (p.Ala713Pro)	RUSC1 (A713P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278038	NM_001105203.2(RUSC1):c.2191G>A (p.Glu731Lys)	RUSC1 (E256K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510386	NM_001105203.2(RUSC1):c.2264C>T (p.Pro755Leu)	RUSC1 (P180L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157218	NM_001105203.2(RUSC1):c.2304G>C (p.Glu768Asp)	RUSC1 (E193D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598095	NM_001105203.2(RUSC1):c.2438C>T (p.Pro813Leu)	RUSC1 (P338L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481007	NM_001105203.2(RUSC1):c.2467C>T (p.Arg823Trp)	RUSC1 (R348W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157220	NM_001105203.2(RUSC1):c.2468G>A (p.Arg823Gln)	RUSC1 (R354Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157221	NM_001105203.2(RUSC1):c.2482G>A (p.Glu828Lys)	RUSC1 (E326K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157222	NM_001105203.2(RUSC1):c.2548C>T (p.Arg850Trp)	RUSC1 (R275W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336685	NM_001105203.2(RUSC1):c.2549G>A (p.Arg850Gln)	RUSC1 (R348Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315813	NM_001105203.2(RUSC1):c.2614C>A (p.Arg872Ser)	RUSC1 (R766S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512024	NM_001105203.2(RUSC1):c.2705T>C (p.Leu902Pro)	RUSC1 (L400P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 32