"Ambry Genetics"[submitter] AND "CUZD1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2491602	NM_022034.6(CUZD1):c.1789G>A (p.Ala597Thr)	FAM24B-CUZD1, CUZD1 (A597T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2329545	NM_022034.6(CUZD1):c.1377G>C (p.Lys459Asn)	FAM24B-CUZD1, CUZD1 (K459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466284	NM_022034.6(CUZD1):c.1337C>A (p.Pro446His)	CUZD1, FAM24B-CUZD1 (P446H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494435	NM_022034.6(CUZD1):c.1249G>T (p.Asp417Tyr)	CUZD1, FAM24B-CUZD1 (D417Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615621	NM_022034.6(CUZD1):c.1231G>C (p.Glu411Gln)	CUZD1, FAM24B-CUZD1 (E411Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216293	NM_022034.6(CUZD1):c.1128A>G (p.Ile376Met)	CUZD1, FAM24B-CUZD1 (I376M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2557852	NM_022034.6(CUZD1):c.1117G>A (p.Val373Met)	CUZD1, FAM24B-CUZD1 (V373M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256488	NM_022034.6(CUZD1):c.982A>G (p.Ile328Val)	CUZD1, FAM24B-CUZD1 (I328V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350985	NM_022034.6(CUZD1):c.958G>A (p.Val320Ile)	FAM24B-CUZD1, CUZD1 (V320I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2369158	NM_022034.6(CUZD1):c.937T>A (p.Ser313Thr)	CUZD1, FAM24B-CUZD1 (S313T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257937	NM_022034.6(CUZD1):c.821C>A (p.Ser274Tyr)	FAM24B-CUZD1, CUZD1 (S274Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293942	NM_022034.6(CUZD1):c.658A>G (p.Thr220Ala)	CUZD1, FAM24B-CUZD1 (T220A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312247	NM_022034.6(CUZD1):c.650G>T (p.Gly217Val)	FAM24B-CUZD1, CUZD1 (G217V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456120	NM_022034.6(CUZD1):c.608T>G (p.Ile203Arg)	CUZD1, FAM24B-CUZD1 (I203R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591584	NM_022034.6(CUZD1):c.287C>T (p.Thr96Ile)	CUZD1, FAM24B-CUZD1 (T96I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286008	NM_022034.6(CUZD1):c.242C>T (p.Pro81Leu)	FAM24B-CUZD1, CUZD1 (P81L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570288	NM_022034.6(CUZD1):c.71C>A (p.Ala24Glu)	CUZD1, FAM24B-CUZD1 (A24E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance