"Ambry Genetics"[submitter] AND "RCSD1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2246393	NM_052862.4(RCSD1):c.46G>A (p.Ala16Thr)	RCSD1 (A16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592826	NM_052862.4(RCSD1):c.92C>T (p.Ala31Val)	RCSD1 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331475	NM_052862.4(RCSD1):c.113C>T (p.Pro38Leu)	RCSD1 (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313442	NM_052862.4(RCSD1):c.124C>T (p.Pro42Ser)	RCSD1 (P42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338609	NM_052862.4(RCSD1):c.134G>A (p.Arg45Lys)	RCSD1 (R45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152757	NM_052862.4(RCSD1):c.155C>A (p.Pro52His)	RCSD1 (P52H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152758	NM_052862.4(RCSD1):c.166C>G (p.Pro56Ala)	RCSD1 (P56A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590267	NM_052862.4(RCSD1):c.166C>T (p.Pro56Ser)	RCSD1 (P56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398644	NM_052862.4(RCSD1):c.221A>T (p.His74Leu)	LOC126805908, RCSD1 (H44L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313443	NM_052862.4(RCSD1):c.235A>G (p.Lys79Glu)	LOC126805908, RCSD1 (K49E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152759	NM_052862.4(RCSD1):c.346T>C (p.Ser116Pro)	RCSD1 (S116P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460006	NM_052862.4(RCSD1):c.392G>A (p.Arg131Gln)	RCSD1 (R131Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373819	NM_052862.4(RCSD1):c.433G>A (p.Asp145Asn)	RCSD1 (D115N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469471	NM_052862.4(RCSD1):c.438G>T (p.Gln146His)	RCSD1 (Q146H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555917	NM_052862.4(RCSD1):c.440C>A (p.Pro147His)	RCSD1 (P117H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456519	NM_052862.4(RCSD1):c.551T>G (p.Leu184Arg)	RCSD1 (L154R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245469	NM_052862.4(RCSD1):c.568G>T (p.Val190Leu)	RCSD1 (V160L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410765	NM_052862.4(RCSD1):c.574T>C (p.Ser192Pro)	RCSD1 (S162P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348760	NM_052862.4(RCSD1):c.620T>G (p.Leu207Trp)	RCSD1 (L153W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288052	NM_052862.4(RCSD1):c.656C>T (p.Ser219Phe)	RCSD1 (S189F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342472	NM_052862.4(RCSD1):c.766G>A (p.Glu256Lys)	RCSD1 (E256K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152760	NM_052862.4(RCSD1):c.797G>A (p.Arg266Gln)	RCSD1 (R236Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152761	NM_052862.4(RCSD1):c.800G>A (p.Ser267Asn)	RCSD1 (S237N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601616	NM_052862.4(RCSD1):c.851C>T (p.Ser284Leu)	RCSD1 (S284L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313441	NM_052862.4(RCSD1):c.879A>C (p.Glu293Asp)	RCSD1 (E239D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357510	NM_052862.4(RCSD1):c.962G>A (p.Arg321Lys)	RCSD1 (R267K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152756	NM_052862.4(RCSD1):c.1073G>A (p.Gly358Asp)	RCSD1 (G304D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27