RSKR[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 3156650	NM_001174103.2(RSKR):c.1220C>T (p.Pro407Leu)	RSKR, SPAG5-AS1 (P407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156649	NM_001174103.2(RSKR):c.1163C>T (p.Ala388Val)	RSKR, SPAG5-AS1 (A388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156648	NM_001174103.2(RSKR):c.1133C>T (p.Thr378Met)	RSKR, SPAG5-AS1 (T378M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156647	NM_001174103.2(RSKR):c.1103T>G (p.Leu368Arg)	RSKR, SPAG5-AS1 (L368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156646	NM_001174103.2(RSKR):c.1093G>C (p.Asp365His)	RSKR, SPAG5-AS1 (D365H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156645	NM_001174103.2(RSKR):c.1061A>G (p.Gln354Arg)	RSKR, SPAG5-AS1 (Q354R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156644	NM_001174103.2(RSKR):c.1042C>T (p.Arg348Cys)	RSKR, SPAG5-AS1 (R348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156643	NM_001174103.2(RSKR):c.1037G>A (p.Arg346His)	RSKR, SPAG5-AS1 (R346H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527373	NM_001174103.2(RSKR):c.991C>A (p.Leu331Ile)	RSKR, SPAG5-AS1 (L331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156665	NM_001174103.2(RSKR):c.988G>A (p.Gly330Ser)	RSKR, SPAG5-AS1 (G330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611540	NM_001174103.2(RSKR):c.938T>G (p.Leu313Trp)	RSKR, SPAG5-AS1 (L313W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488544	NM_001174103.2(RSKR):c.914C>T (p.Ala305Val)	RSKR, SPAG5-AS1 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463273	NM_001174103.2(RSKR):c.886C>A (p.Leu296Met)	LOC126862524, RSKR +1 more (L296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156663	NM_001174103.2(RSKR):c.856T>G (p.Trp286Gly)	LOC126862524, RSKR +1 more (W286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513391	NM_001174103.2(RSKR):c.832G>C (p.Gly278Arg)	LOC126862524, RSKR +1 more (G278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623820	NM_001174103.2(RSKR):c.764C>G (p.Pro255Arg)	LOC126862524, RSKR +1 more (P255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515742	NM_001174103.2(RSKR):c.755G>A (p.Arg252His)	LOC126862524, RSKR +1 more (R252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156662	NM_001174103.2(RSKR):c.754C>T (p.Arg252Cys)	LOC126862524, RSKR +1 more (R252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156661	NM_001174103.2(RSKR):c.706C>A (p.Leu236Ile)	LOC126862524, RSKR +1 more (L236I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156660	NM_001174103.2(RSKR):c.587C>T (p.Ser196Leu)	LOC126862524, RSKR +1 more (S196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156659	NM_001174103.2(RSKR):c.570T>A (p.Asp190Glu)	LOC126862524, RSKR +1 more (D190E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565298	NM_001174103.2(RSKR):c.506G>A (p.Ser169Asn)	RSKR, SPAG5-AS1 (S169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156657	NM_001174103.2(RSKR):c.479G>A (p.Arg160Gln)	RSKR, SPAG5-AS1 (R160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156655	NM_001174103.2(RSKR):c.368A>G (p.Lys123Arg)	RSKR, SPAG5-AS1 (K123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611900	NM_001174103.2(RSKR):c.364C>A (p.Leu122Ile)	RSKR, SPAG5-AS1 (L122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156654	NM_001174103.2(RSKR):c.320T>A (p.Leu107Gln)	RSKR, SPAG5-AS1 (L107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156653	NM_001174103.2(RSKR):c.215C>T (p.Ala72Val)	RSKR, SPAG5-AS1 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156651	NM_001174103.2(RSKR):c.175C>T (p.Arg59Trp)	RSKR, SPAG5-AS1 (R59W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156658	NM_001174103.2(RSKR):c.55C>T (p.Arg19Trp)	RSKR, SPAG5-AS1 (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156656	NM_001174103.2(RSKR):c.39G>C (p.Gln13His)	RSKR, SPAG5-AS1 (Q13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156652	NM_001174103.2(RSKR):c.19C>T (p.Arg7Trp)	RSKR, SPAG5-AS1 (R7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32