"Ambry Genetics"[submitter] AND "NHLRC2"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199794	NM_198514.4(NHLRC2):c.59C>T (p.Ser20Leu)	LOC130004775, NHLRC2 (S20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473807	NM_198514.4(NHLRC2):c.116A>G (p.Tyr39Cys)	LOC130004775, NHLRC2 (Y39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335159	NM_198514.4(NHLRC2):c.119A>G (p.Gln40Arg)	LOC130004775, NHLRC2 (Q40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2267695	NM_198514.4(NHLRC2):c.217T>A (p.Tyr73Asn)	NHLRC2 (Y73N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199793	NM_198514.4(NHLRC2):c.244G>C (p.Val82Leu)	NHLRC2 (V82L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261127	NM_198514.4(NHLRC2):c.344T>C (p.Ile115Thr)	NHLRC2 (I115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295859	NM_198514.4(NHLRC2):c.433A>G (p.Met145Val)	NHLRC2 (M145V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2274045	NM_198514.4(NHLRC2):c.454A>G (p.Ser152Gly)	NHLRC2 (S152G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297598	NM_198514.4(NHLRC2):c.545G>A (p.Gly182Glu)	NHLRC2 (G182E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487414	NM_198514.4(NHLRC2):c.577A>G (p.Ile193Val)	NHLRC2 (I193V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282517	NM_198514.4(NHLRC2):c.607C>A (p.Gln203Lys)	NHLRC2 (Q203K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299637	NM_198514.4(NHLRC2):c.608A>G (p.Gln203Arg)	NHLRC2 (Q203R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458500	NM_198514.4(NHLRC2):c.803G>C (p.Arg268Thr)	NHLRC2 (R268T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211692	NM_198514.4(NHLRC2):c.960A>C (p.Gln320His)	NHLRC2 (Q320H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465979	NM_198514.4(NHLRC2):c.1021G>A (p.Val341Ile)	NHLRC2 (V341I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675436	NM_198514.4(NHLRC2):c.1115A>G (p.Asp372Gly)	NHLRC2 (D372G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3199786	NM_198514.4(NHLRC2):c.1147A>T (p.Thr383Ser)	NHLRC2 (T383S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408781	NM_198514.4(NHLRC2):c.1349T>C (p.Val450Ala)	NHLRC2 (V450A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378517	NM_198514.4(NHLRC2):c.1358A>G (p.Glu453Gly)	NHLRC2 (E453G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307679	NM_198514.4(NHLRC2):c.1475C>G (p.Ala492Gly)	NHLRC2 (A492G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199787	NM_198514.4(NHLRC2):c.1556A>G (p.Asn519Ser)	NHLRC2 (N519S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3299638	NM_198514.4(NHLRC2):c.1580C>T (p.Thr527Ile)	NHLRC2 (T527I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299636	NM_198514.4(NHLRC2):c.1580C>A (p.Thr527Lys)	NHLRC2 (T527K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399006	NM_198514.4(NHLRC2):c.1596T>G (p.Asn532Lys)	NHLRC2 (N532K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463146	NM_198514.4(NHLRC2):c.1645G>A (p.Ala549Thr)	NHLRC2 (A549T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331528	NM_198514.4(NHLRC2):c.1751T>C (p.Leu584Pro)	NHLRC2 (L584P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1331534	NM_198514.4(NHLRC2):c.1823C>T (p.Ala608Val)	NHLRC2 (A608V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3199788	NM_198514.4(NHLRC2):c.1873G>A (p.Gly625Arg)	NHLRC2 (G625R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238273	NM_198514.4(NHLRC2):c.1894G>C (p.Val632Leu)	NHLRC2 (V632L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199789	NM_198514.4(NHLRC2):c.1928A>G (p.Asn643Ser)	NHLRC2 (N643S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299639	NM_198514.4(NHLRC2):c.1966A>G (p.Ile656Val)	NHLRC2 (I656V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199790	NM_198514.4(NHLRC2):c.1967T>C (p.Ile656Thr)	NHLRC2 (I656T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199791	NM_198514.4(NHLRC2):c.1969G>A (p.Glu657Lys)	NHLRC2 (E657K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547234	NM_198514.4(NHLRC2):c.2047A>T (p.Ser683Cys)	NHLRC2 (S683C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288454	NM_198514.4(NHLRC2):c.2048G>C (p.Ser683Thr)	NHLRC2 (S683T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299034	NM_198514.4(NHLRC2):c.2062T>C (p.Tyr688His)	NHLRC2 (Y688H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 36