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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141439	NM_006319.5(CDIPT):c.617C>T (p.Ala206Val)	CDIPT (A161V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368362	NM_006319.5(CDIPT):c.596G>A (p.Arg199His)	CDIPT (R154H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268615	NM_006319.5(CDIPT):c.575T>C (p.Ile192Thr)	CDIPT (I147T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237373	NM_006319.5(CDIPT):c.560C>T (p.Ser187Leu)	CDIPT (S122L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378423	NM_006319.5(CDIPT):c.517C>T (p.Arg173Trp)	CDIPT (R173W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286975	NM_006319.5(CDIPT):c.436G>T (p.Ala146Ser)	CDIPT (A146S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510207	NM_006319.5(CDIPT):c.413G>A (p.Arg138Lys)	CDIPT (R138K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368686	NM_006319.5(CDIPT):c.229A>G (p.Met77Val)	CDIPT (M77V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538518	NM_006319.5(CDIPT):c.212C>T (p.Thr71Met)	CDIPT (T6M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267369	NM_006319.5(CDIPT):c.199C>G (p.Leu67Val)	CDIPT (L2V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270763	NM_006319.5(CDIPT):c.142G>A (p.Ala48Thr)	CDIPT (A48T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2221116	NM_006319.5(CDIPT):c.80A>G (p.Tyr27Cys)	CDIPT (Y27C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470764	NM_006319.5(CDIPT):c.64G>T (p.Ala22Ser)	CDIPT (A22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance