NLRP10[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 2245460	NM_001391958.1(NLRP10):c.1948C>T (p.Pro650Ser)	NLRP10 (P650S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330796	NM_001391958.1(NLRP10):c.1906A>G (p.Lys636Glu)	NLRP10 (K636E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103336	NM_001391958.1(NLRP10):c.1887T>C (p.Asp629=)	NLRP10	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103335	NM_001391958.1(NLRP10):c.1873_1875del (p.Lys625del)	NLRP10 (K625del)	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 786591	NM_001391958.1(NLRP10):c.1836T>A (p.Pro612=)	NLRP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200530	NM_001391958.1(NLRP10):c.1648G>A (p.Glu550Lys)	NLRP10 (E550K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200529	NM_001391958.1(NLRP10):c.1601G>C (p.Cys534Ser)	NLRP10 (C534S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507977	NM_001391958.1(NLRP10):c.1579T>G (p.Ser527Ala)	NLRP10 (S527A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373068	NM_001391958.1(NLRP10):c.1569A>T (p.Lys523Asn)	NLRP10 (K523N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200528	NM_001391958.1(NLRP10):c.1522G>A (p.Asp508Asn)	NLRP10 (D508N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200527	NM_001391958.1(NLRP10):c.1519A>G (p.Asn507Asp)	NLRP10 (N507D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103334	NM_001391958.1(NLRP10):c.1410G>A (p.Gln470=)	NLRP10	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2266099	NM_001391958.1(NLRP10):c.1408C>G (p.Gln470Glu)	NLRP10 (Q470E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222252	NM_001391958.1(NLRP10):c.1381T>C (p.Phe461Leu)	NLRP10 (F461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386290	NM_001391958.1(NLRP10):c.1366C>T (p.Leu456Phe)	NLRP10 (L456F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486172	NM_001391958.1(NLRP10):c.1351G>A (p.Asp451Asn)	NLRP10 (D451N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300014	NM_001391958.1(NLRP10):c.1337T>C (p.Phe446Ser)	NLRP10 (F446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389739	NM_001391958.1(NLRP10):c.1288G>A (p.Glu430Lys)	NLRP10 (E430K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200526	NM_001391958.1(NLRP10):c.1211T>G (p.Leu404Arg)	NLRP10 (L404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200525	NM_001391958.1(NLRP10):c.1168T>C (p.Ser390Pro)	NLRP10 (S390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332474	NM_001391958.1(NLRP10):c.1052G>A (p.Cys351Tyr)	NLRP10 (C351Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200524	NM_001391958.1(NLRP10):c.1039C>G (p.Leu347Val)	NLRP10 (L347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103339	NM_001391958.1(NLRP10):c.993G>A (p.Glu331=)	NLRP10	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2300914	NM_001391958.1(NLRP10):c.934A>C (p.Ile312Leu)	NLRP10 (I312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776581	NM_001391958.1(NLRP10):c.861C>T (p.Ser287=)	NLRP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200535	NM_001391958.1(NLRP10):c.859T>C (p.Ser287Pro)	NLRP10 (S287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319535	NM_001391958.1(NLRP10):c.844A>G (p.Thr282Ala)	NLRP10 (T282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200534	NM_001391958.1(NLRP10):c.820C>A (p.Leu274Met)	NLRP10 (L274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200533	NM_001391958.1(NLRP10):c.809A>G (p.Lys270Arg)	NLRP10 (K270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786592	NM_001391958.1(NLRP10):c.792G>A (p.Lys264=)	NLRP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3300017	NM_001391958.1(NLRP10):c.686A>G (p.Asp229Gly)	NLRP10 (D229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313083	NM_001391958.1(NLRP10):c.682G>A (p.Gly228Arg)	NLRP10 (G228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548129	NM_001391958.1(NLRP10):c.661C>A (p.Gln221Lys)	NLRP10 (Q221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599270	NM_001391958.1(NLRP10):c.547G>A (p.Ala183Thr)	NLRP10 (A183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795131	NM_001391958.1(NLRP10):c.520_521dup (p.Ala175fs)	NLRP10 (A175fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 2548358	NM_001391958.1(NLRP10):c.473C>T (p.Ser158Leu)	NLRP10 (S158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300018	NM_001391958.1(NLRP10):c.308G>A (p.Arg103Gln)	NLRP10 (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606482	NM_001391958.1(NLRP10):c.308G>T (p.Arg103Leu)	NLRP10 (R103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103338	NM_001391958.1(NLRP10):c.289+41G>T	NLRP10	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3300015	NM_001391958.1(NLRP10):c.277A>G (p.Ile93Val)	NLRP10 (I93V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372464	NM_001391958.1(NLRP10):c.275A>G (p.His92Arg)	NLRP10 (H92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271137	NM_001391958.1(NLRP10):c.272G>A (p.Ser91Asn)	NLRP10 (S91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338396	NM_001391958.1(NLRP10):c.242T>C (p.Met81Thr)	NLRP10 (M81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200531	NM_001391958.1(NLRP10):c.223C>T (p.Leu75Phe)	NLRP10 (L75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103337	NM_001391958.1(NLRP10):c.217G>A (p.Val73Ile)	NLRP10 (V73I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2479103	NM_001391958.1(NLRP10):c.184A>G (p.Ile62Val)	NLRP10 (I62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200536	NM_001391958.1(NLRP10):c.98G>A (p.Arg33Gln)	NLRP10 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200532	NM_001391958.1(NLRP10):c.76A>G (p.Lys26Glu)	NLRP10 (K26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403854	NM_001391958.1(NLRP10):c.28C>T (p.Arg10Trp)	NLRP10 (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458492	NM_001391958.1(NLRP10):c.11C>G (p.Ala4Gly)	NLRP10 (A4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 102951	NM_176821.3(NLRP10):c.-304G>A	NLRP10	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 102952	NM_176821.3(NLRP10):c.-452T>G	NLRP10	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 2684636	GRCh37/hg19 11p15.4(chr11:7922549-8155364)x3	EIF3F, NLRP10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 685542	GRCh37/hg19 11p15.4(chr11:7953436-8303138)x3	EIF3F, LMO1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563868	GRCh37/hg19 11p15.4(chr11:7837338-9295428)x3	TRIM66, STK33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 563863	GRCh37/hg19 11p15.4(chr11:7418934-8308834)x3	OR10A6, OR5P2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563825	GRCh37/hg19 11p15.4(chr11:7797256-7982842)x1	OR10A6, OR5P2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 73