"Ambry Genetics"[submitter] AND "CTDSP1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2538692	NM_021198.3(CTDSP1):c.11C>T (p.Ser4Leu)	CTDSP1 (S4L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311389	NM_021198.3(CTDSP1):c.33C>G (p.Ser11Arg)	CTDSP1 (S11R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078599	NM_021198.3(CTDSP1):c.41A>C (p.Glu14Ala)	CTDSP1 (E14A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241804	NM_021198.3(CTDSP1):c.142C>G (p.Arg48Gly)	CTDSP1 (R48G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078597	NM_021198.3(CTDSP1):c.160C>G (p.Leu54Val)	CTDSP1 (L37V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475385	NM_021198.3(CTDSP1):c.173G>A (p.Ser58Asn)	CTDSP1 (S41N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459500	NM_021198.3(CTDSP1):c.181C>G (p.Pro61Ala)	CTDSP1 (P44A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323289	NM_021198.3(CTDSP1):c.359T>C (p.Ile120Thr)	CTDSP1 (I119T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473874	NM_021198.3(CTDSP1):c.424A>G (p.Met142Val)	CTDSP1 (M141V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345346	NM_021198.3(CTDSP1):c.502A>G (p.Lys168Glu)	CTDSP1 (K148E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244517	NM_021198.3(CTDSP1):c.520G>T (p.Ala174Ser)	CTDSP1 (A139S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250132	NM_021198.3(CTDSP1):c.553C>T (p.Arg185Trp)	CTDSP1 (R193W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622204	NM_021198.3(CTDSP1):c.599G>A (p.Arg200Gln)	CTDSP1 (R199Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078600	NM_021198.3(CTDSP1):c.733A>T (p.Ser245Cys)	CTDSP1 (S225C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345198	NM_021198.3(CTDSP1):c.737G>A (p.Arg246His)	CTDSP1 (R211H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552377	NM_021198.3(CTDSP1):c.773G>A (p.Arg258Gln)	CTDSP1 (R239Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance