"Ambry Genetics"[submitter] AND "NCR1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2304810	NM_004829.7(NCR1):c.10A>G (p.Thr4Ala)	NCR1 (T4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185266	NM_004829.7(NCR1):c.88T>G (p.Phe30Val)	NCR1 (F30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484491	NM_004829.7(NCR1):c.127A>G (p.Lys43Glu)	NCR1 (K43E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298938	NM_004829.7(NCR1):c.181C>A (p.His61Asn)	NCR1 (H61N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185234	NM_004829.7(NCR1):c.181C>G (p.His61Asp)	NCR1 (H61D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259138	NM_004829.7(NCR1):c.182A>G (p.His61Arg)	NCR1 (H61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185239	NM_004829.7(NCR1):c.226G>C (p.Glu76Gln)	NCR1 (E76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301128	NM_004829.7(NCR1):c.263T>G (p.Met88Arg)	NCR1 (M88R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379927	NM_004829.7(NCR1):c.271C>T (p.Arg91Cys)	NCR1 (R91C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487097	NM_004829.7(NCR1):c.331A>G (p.Asn111Asp)	NCR1 (N111D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3298939	NM_004829.7(NCR1):c.426C>G (p.Phe142Leu)	NCR1 (F47L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185247	NM_004829.7(NCR1):c.442A>C (p.Thr148Pro)	NCR1 (T53P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299334	NM_004829.7(NCR1):c.482C>T (p.Ser161Phe)	NCR1 (S66F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185254	NM_004829.7(NCR1):c.494A>G (p.Gln165Arg)	NCR1 (Q165R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298940	NM_004829.7(NCR1):c.533G>A (p.Gly178Asp)	NCR1 (G83D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468308	NM_004829.7(NCR1):c.566G>A (p.Arg189Gln)	NCR1 (R94Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363911	NM_004829.7(NCR1):c.644A>G (p.Glu215Gly)	NCR1 (E120G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3298937	NM_004829.7(NCR1):c.764A>G (p.Asn255Ser)	NCR1 (N143S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337342	NM_004829.7(NCR1):c.773G>A (p.Arg258Gln)	NCR1 (R241Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185264	NM_004829.7(NCR1):c.802G>T (p.Ala268Ser)	NCR1 (A173S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 330155	NM_001127255.2(NLRP7):c.3083C>T (p.Thr1028Met)	NCR1, NLRP7 (T971M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2397043	NM_001127255.2(NLRP7):c.3030A>C (p.Glu1010Asp)	NCR1, NLRP7 (E1010D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200702	NM_001127255.2(NLRP7):c.3018G>C (p.Lys1006Asn)	NCR1, NLRP7 (K1006N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211470	NM_001127255.2(NLRP7):c.2995G>A (p.Glu999Lys)	NCR1, NLRP7 (E971K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218924	NM_001127255.2(NLRP7):c.2806C>A (p.Leu936Ile)	NCR1, NLRP7 (L908I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207880	NM_001127255.2(NLRP7):c.2803C>T (p.His935Tyr)	NCR1, NLRP7 (H907Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 330157	NM_001127255.2(NLRP7):c.2750G>A (p.Arg917His)	NCR1, NLRP7 (R917H +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GUncertain significance
Select item 2557448	NM_001127255.2(NLRP7):c.2717C>A (p.Thr906Lys)	NCR1, NLRP7 (T878K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200701	NM_001127255.2(NLRP7):c.2704G>A (p.Ala902Thr)	NCR1, NLRP7 (A874T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200700	NM_001127255.2(NLRP7):c.2681A>G (p.Tyr894Cys)	NCR1, NLRP7 (Y894C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302393	NM_001127255.2(NLRP7):c.2654G>A (p.Cys885Tyr)	NCR1, NLRP7 (C857Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604243	NM_001127255.2(NLRP7):c.2551C>G (p.Leu851Val)	NCR1, NLRP7 (L823V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253982	NM_001127255.2(NLRP7):c.2485C>T (p.Arg829Cys)	NCR1, NLRP7 (R801C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206406	NM_001127255.2(NLRP7):c.2453A>G (p.His818Arg)	NCR1, NLRP7 (H818R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326826	NM_001127255.2(NLRP7):c.2439G>C (p.Met813Ile)	NCR1, NLRP7 (M785I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 330160	NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His)	NCR1, NLRP7 (R795H +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GConflicting classifications of pathogenicity
Select item 3300109	NM_001127255.2(NLRP7):c.2226C>G (p.Ile742Met)	NCR1, NLRP7 (I714M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368077	NM_001127255.2(NLRP7):c.2162G>T (p.Arg721Leu)	NCR1, NLRP7 (R721L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362816	NM_001127255.2(NLRP7):c.2155G>A (p.Ala719Thr)	NCR1, NLRP7 (A719T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365099	NM_001127255.2(NLRP7):c.2105G>A (p.Ser702Asn)	NCR1, NLRP7 (S674N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300104	NM_001127255.2(NLRP7):c.2008C>G (p.Leu670Val)	NCR1, NLRP7 (L670V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2610862	NM_001127255.2(NLRP7):c.1976G>A (p.Arg659His)	NCR1, NLRP7 (R659H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 42