"Ambry Genetics"[submitter] AND "ZDHHC20"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2524830	NM_001330059.2(ZDHHC20):c.*41G>A	ZDHHC20 (G353D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2480348	NM_001330059.2(ZDHHC20):c.962C>G (p.Pro321Arg)	ZDHHC20 (P258R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617431	NM_001330059.2(ZDHHC20):c.896T>G (p.Met299Arg)	ZDHHC20 (M299R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347401	NM_001330059.2(ZDHHC20):c.880A>G (p.Thr294Ala)	ZDHHC20 (T231A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508656	NM_001330059.2(ZDHHC20):c.737G>A (p.Arg246His)	ZDHHC20 (R183H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267466	NM_001330059.2(ZDHHC20):c.736C>T (p.Arg246Cys)	ZDHHC20 (R246C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221454	NM_001330059.2(ZDHHC20):c.634T>C (p.Phe212Leu)	ZDHHC20 (F149L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596038	NM_001330059.2(ZDHHC20):c.628G>A (p.Val210Ile)	ZDHHC20 (V147I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233145	NM_001330059.2(ZDHHC20):c.607G>A (p.Asp203Asn)	ZDHHC20 (D203N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512238	NM_001330059.2(ZDHHC20):c.593C>T (p.Thr198Met)	ZDHHC20 (T198M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306874	NM_001330059.2(ZDHHC20):c.568T>G (p.Leu190Val)	ZDHHC20 (L127V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605510	NM_001330059.2(ZDHHC20):c.553G>A (p.Val185Met)	ZDHHC20 (V122M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249986	NM_001330059.2(ZDHHC20):c.502T>C (p.Tyr168His)	ZDHHC20 (Y168H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622565	NM_001330059.2(ZDHHC20):c.293T>C (p.Phe98Ser)	ZDHHC20 (F35S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534765	NM_001330059.2(ZDHHC20):c.151A>G (p.Thr51Ala)	ZDHHC20 (T51A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2406443	NM_001330059.2(ZDHHC20):c.100G>A (p.Val34Met)	ZDHHC20 (V34M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2252930	NM_001330059.2(ZDHHC20):c.14C>G (p.Thr5Arg)	ZDHHC20 (T5R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance