"CTDP1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057683	NM_004715.5(CTDP1):c.-5C>T	CTDP1	Single nucleotide variant (5 prime UTR variant)	CTDP1-related disorder	GLikely benign
Select item 710137	NM_004715.5(CTDP1):c.294G>A (p.Pro98=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2177245	NM_004715.5(CTDP1):c.384C>G (p.Gly128=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 790749	NM_004715.5(CTDP1):c.492+8G>T	CTDP1	Single nucleotide variant (intron variant)	CTDP1-related disorder +1 more	GBenign
Select item 2714348	NM_004715.5(CTDP1):c.591C>T (p.Thr197=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 284647	NM_004715.5(CTDP1):c.669G>A (p.Thr223=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2053041	NM_004715.5(CTDP1):c.759A>G (p.Ala253=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 719547	NM_004715.5(CTDP1):c.780A>G (p.Leu260=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder +1 more	GBenign/Likely benign
Select item 736095	NM_004715.5(CTDP1):c.863+10C>T	CTDP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2048487	NM_004715.5(CTDP1):c.864-3T>C	CTDP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730624	NM_004715.5(CTDP1):c.1066T>C (p.Ser356Pro)	CTDP1 (S356P +1 more)	Single nucleotide variant (missense variant)	CTDP1-related disorder +1 more	GBenign/Likely benign
Select item 3053200	NM_004715.5(CTDP1):c.1290G>A (p.Ala430=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder	GLikely benign
Select item 3057698	NM_004715.5(CTDP1):c.1338G>A (p.Thr446=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder	GLikely benign
Select item 3046806	NM_004715.5(CTDP1):c.1341C>A (p.Gly447=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder	GLikely benign
Select item 2648830	NM_004715.5(CTDP1):c.1419C>G (p.Ala473=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3045497	NM_004715.5(CTDP1):c.1487C>T (p.Ala496Val)	CTDP1 (A377V +1 more)	Single nucleotide variant (missense variant)	CTDP1-related disorder	GBenign
Select item 2636062	NM_004715.5(CTDP1):c.1543G>A (p.Gly515Arg)	CTDP1 (G396R +1 more)	Single nucleotide variant (missense variant)	CTDP1-related disorder +1 more	GUncertain significance
Select item 799452	NM_004715.5(CTDP1):c.1626C>T (p.Cys542=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder +1 more	GBenign/Likely benign
Select item 3047246	NM_004715.5(CTDP1):c.1692G>A (p.Ser564=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder	GLikely benign
Select item 2634877	NM_004715.5(CTDP1):c.1829G>A (p.Arg610His)	CTDP1 (R491H +1 more)	Single nucleotide variant (missense variant)	CTDP1-related disorder	GUncertain significance
Select item 3047111	NM_004715.5(CTDP1):c.1938G>A (p.Pro646=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder	GLikely benign
Select item 3044689	NM_004715.5(CTDP1):c.1987C>T (p.Leu663=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder	GLikely benign
Select item 790467	NM_004715.5(CTDP1):c.2028C>T (p.Asp676=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder +1 more	GLikely benign
Select item 3051482	NM_004715.5(CTDP1):c.2055C>T (p.Ile685=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder	GLikely benign
Select item 745739	NM_004715.5(CTDP1):c.2217C>T (p.Asn739=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 782920	NM_004715.5(CTDP1):c.2223T>C (p.Pro741=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder +1 more	GBenign
Select item 3032080	NM_004715.5(CTDP1):c.2259C>T (p.Thr753=)	CTDP1	Single nucleotide variant (synonymous variant)	CTDP1-related disorder	GLikely benign
Select item 726270	NM_004715.5(CTDP1):c.2323G>A (p.Asp775Asn)	CTDP1 (D656N +1 more)	Single nucleotide variant (missense variant)	CTDP1-related disorder +1 more	GLikely benign
Select item 2155978	NM_004715.5(CTDP1):c.2421G>A (p.Ala807=)	CTDP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2056959	NM_004715.5(CTDP1):c.2439G>A (p.Pro813=)	CTDP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2421354	NM_004715.5(CTDP1):c.2535G>A (p.Pro845=)	CTDP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 717570	NM_004715.5(CTDP1):c.2727G>A (p.Ala909=)	CTDP1 (R855Q)	Single nucleotide variant (synonymous variant +2 more)	CTDP1-related disorder +2 more	GLikely benign

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Items: 32