ClinVar for Gene (Select 4982) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245563	NC_000008.10:g.(?_116426251)_(119965024_?)del	AARD, EIF3H +9 more	Deletion	not provided	GPathogenic
Select item 3245509	NC_000008.10:g.(?_116426251)_(120844804_?)del	CCN3, AARD +14 more	Deletion	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 3245404	NC_000008.10:g.(?_116426251)_(120844804_?)dup	AARD, CCN3 +14 more	Duplication	Trichorhinophalangeal syndrome, type III +2 more	GUncertain significance
Select item 3245402	NC_000008.10:g.(?_118649470)_(122282519_?)del	CCN3, COL14A1 +12 more	Deletion	Multiple congenital exostosis	GPathogenic
Select item 3180235	NM_002546.4(TNFRSF11B):c.895A>T (p.Met299Leu)	TNFRSF11B (M299L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180234	NM_002546.4(TNFRSF11B):c.509G>A (p.Gly170Asp)	TNFRSF11B (G170D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180233	NM_002546.4(TNFRSF11B):c.177G>C (p.Lys59Asn)	TNFRSF11B (K59N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3062042	NM_002546.4(TNFRSF11B):c.419_420del (p.Thr140fs)	TNFRSF11B (T140fs)	Deletion (frameshift variant)	Hyperphosphatasemia with bone disease	GLikely pathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 3012328	NM_002546.4(TNFRSF11B):c.1109G>A (p.Arg370Lys)	TNFRSF11B (R370K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010894	NM_002546.4(TNFRSF11B):c.847C>T (p.Arg283Trp)	TNFRSF11B (R283W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008233	NM_002546.4(TNFRSF11B):c.999A>T (p.Arg333=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006782	NM_002546.4(TNFRSF11B):c.1102A>C (p.Thr368Pro)	TNFRSF11B (T368P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000639	NM_002546.4(TNFRSF11B):c.218G>A (p.Ser73Asn)	TNFRSF11B (S73N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997790	NM_002546.4(TNFRSF11B):c.544G>A (p.Asp182Asn)	TNFRSF11B (D182N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996824	NM_002546.4(TNFRSF11B):c.837C>T (p.Asn279=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996810	NM_002546.4(TNFRSF11B):c.30+19C>G	TNFRSF11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992877	NM_002546.4(TNFRSF11B):c.592+20C>T	TNFRSF11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988795	NM_002546.4(TNFRSF11B):c.766T>G (p.Leu256Val)	TNFRSF11B (L256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988428	NM_002546.4(TNFRSF11B):c.983T>C (p.Leu328Pro)	TNFRSF11B (L328P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983867	NM_002546.4(TNFRSF11B):c.744A>G (p.Glu248=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978532	NM_002546.4(TNFRSF11B):c.333C>T (p.Arg111=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967994	NM_002546.4(TNFRSF11B):c.276C>T (p.Tyr92=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965523	NM_002546.4(TNFRSF11B):c.794A>G (p.Asp265Gly)	TNFRSF11B (D265G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964405	NM_002546.4(TNFRSF11B):c.623G>C (p.Arg208Thr)	TNFRSF11B (R208T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963726	NM_002546.4(TNFRSF11B):c.653A>C (p.Asn218Thr)	TNFRSF11B (N218T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903826	NM_002546.4(TNFRSF11B):c.1055C>A (p.Ser352Ter)	TNFRSF11B (S352*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2902853	NM_002546.4(TNFRSF11B):c.330G>A (p.Gly110=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879440	NM_002546.4(TNFRSF11B):c.1142A>G (p.Tyr381Cys)	TNFRSF11B (Y381C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874443	NM_002546.4(TNFRSF11B):c.592+7A>G	TNFRSF11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870826	NM_002546.4(TNFRSF11B):c.412C>T (p.Arg138Ter)	TNFRSF11B (R138*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2819359	NM_002546.4(TNFRSF11B):c.401-12T>C	TNFRSF11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810350	NM_002546.4(TNFRSF11B):c.1173C>G (p.Asn391Lys)	TNFRSF11B (N391K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795752	NM_002546.4(TNFRSF11B):c.965G>C (p.Ser322Thr)	TNFRSF11B (S322T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784704	NM_002546.4(TNFRSF11B):c.78A>G (p.Pro26=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763959	NM_002546.4(TNFRSF11B):c.615A>T (p.Ala205=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757553	NM_002546.4(TNFRSF11B):c.1173C>T (p.Asn391=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757302	NM_002546.4(TNFRSF11B):c.166G>C (p.Ala56Pro)	TNFRSF11B (A56P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716759	NM_002546.4(TNFRSF11B):c.103A>G (p.Thr35Ala)	TNFRSF11B (T35A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716446	NM_002546.4(TNFRSF11B):c.886C>T (p.Arg296Cys)	TNFRSF11B (R296C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695610	NM_002546.4(TNFRSF11B):c.97G>C (p.Glu33Gln)	TNFRSF11B (E33Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2532199	NM_002546.4(TNFRSF11B):c.897G>A (p.Met299Ile)	TNFRSF11B (M299I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532198	NM_002546.4(TNFRSF11B):c.439G>C (p.Asp147His)	TNFRSF11B (D147H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528608	NM_002546.4(TNFRSF11B):c.992T>C (p.Leu331Ser)	TNFRSF11B (L331S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477393	NM_002546.4(TNFRSF11B):c.380G>A (p.Gly127Glu)	TNFRSF11B (G127E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424480	NC_000008.10:g.(?_117859739)_(120844804_?)del	AARD, CCN3 +10 more	Deletion	not provided	GPathogenic
Select item 2424479	NC_000008.10:g.(?_118811951)_(120844804_?)dup	CCN3, COLEC10 +6 more	Duplication	not provided	GUncertain significance
Select item 2422394	NC_000008.10:g.(?_117647788)_(120797526_?)dup	AARD, CCN3 +12 more	Duplication	Multiple congenital exostosis	GUncertain significance
Select item 2324335	NM_002546.4(TNFRSF11B):c.607G>C (p.Glu203Gln)	TNFRSF11B (E203Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324194	NM_002546.4(TNFRSF11B):c.127A>G (p.Lys43Glu)	TNFRSF11B (K43E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282696	NM_002546.4(TNFRSF11B):c.1102A>G (p.Thr368Ala)	TNFRSF11B (T368A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2282695	NM_002546.4(TNFRSF11B):c.1097A>C (p.Lys366Thr)	TNFRSF11B (K366T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192416	NM_002546.4(TNFRSF11B):c.909G>A (p.Pro303=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171419	NM_002546.4(TNFRSF11B):c.334T>C (p.Tyr112His)	TNFRSF11B (Y112H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170919	NM_002546.4(TNFRSF11B):c.542A>T (p.His181Leu)	TNFRSF11B (H181L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2159932	NM_002546.4(TNFRSF11B):c.543C>T (p.His181=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159159	NM_002546.4(TNFRSF11B):c.331C>T (p.Arg111Cys)	TNFRSF11B (R111C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142243	NM_002546.4(TNFRSF11B):c.1111T>G (p.Phe371Val)	TNFRSF11B (F371V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139064	NM_002546.4(TNFRSF11B):c.613G>T (p.Ala205Ser)	TNFRSF11B (A205S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136706	NM_002546.4(TNFRSF11B):c.25_28dup (p.Val10fs)	TNFRSF11B (V10fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2134682	NM_002546.4(TNFRSF11B):c.64G>A (p.Glu22Lys)	TNFRSF11B (E22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112294	NM_002546.4(TNFRSF11B):c.297C>T (p.Arg99=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104747	NM_002546.4(TNFRSF11B):c.1140G>C (p.Leu380Phe)	TNFRSF11B (L380F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091224	NM_002546.4(TNFRSF11B):c.962C>T (p.Pro321Leu)	TNFRSF11B (P321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064355	NM_002546.4(TNFRSF11B):c.709G>A (p.Val237Ile)	TNFRSF11B (V237I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059376	NM_002546.4(TNFRSF11B):c.461C>T (p.Thr154Met)	TNFRSF11B (T154M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036776	NM_002546.4(TNFRSF11B):c.147C>T (p.Tyr49=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014750	NM_002546.4(TNFRSF11B):c.1166T>C (p.Ile389Thr)	TNFRSF11B (I389T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008158	NM_002546.4(TNFRSF11B):c.769T>A (p.Trp257Arg)	TNFRSF11B (W257R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992010	NM_002546.4(TNFRSF11B):c.331C>A (p.Arg111Ser)	TNFRSF11B (R111S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1990833	NM_002546.4(TNFRSF11B):c.30+16A>G	TNFRSF11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987886	NM_002546.4(TNFRSF11B):c.1192A>C (p.Ile398Leu)	TNFRSF11B (I398L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970711	NM_002546.4(TNFRSF11B):c.30+11G>A	TNFRSF11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1963387	NM_002546.4(TNFRSF11B):c.592+13C>G	TNFRSF11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958465	NM_002546.4(TNFRSF11B):c.631G>C (p.Val211Leu)	TNFRSF11B (V211L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958375	NM_002546.4(TNFRSF11B):c.475C>T (p.Pro159Ser)	TNFRSF11B (P159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936769	NM_002546.4(TNFRSF11B):c.797T>C (p.Ile266Thr)	TNFRSF11B (I266T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924088	NM_002546.4(TNFRSF11B):c.1002A>G (p.Ile334Met)	TNFRSF11B (I334M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904776	NM_002546.4(TNFRSF11B):c.912A>C (p.Gly304=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896497	NM_002546.4(TNFRSF11B):c.31-5_31-3del	TNFRSF11B	Deletion (intron variant)	not provided	GLikely benign
Select item 1808876	GRCh37/hg19 8q24.11-24.12(chr8:118492577-121075880)x3	CCN3, COLEC10 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1807843	GRCh37/hg19 8q24.11-24.12(chr8:118645068-121684174)x1	CCN3, COL14A1 +12 more	Copy number loss	not provided	GPathogenic
Select item 1722958	NM_002546.4(TNFRSF11B):c.820A>G (p.Ile274Val)	TNFRSF11B (I274V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722909	NM_002546.4(TNFRSF11B):c.823G>C (p.Asp275His)	TNFRSF11B (D275H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721827	NM_002546.4(TNFRSF11B):c.584G>T (p.Cys195Phe)	TNFRSF11B (C195F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721698	NM_002546.4(TNFRSF11B):c.613G>A (p.Ala205Thr)	TNFRSF11B (A205T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714492	NM_002546.4(TNFRSF11B):c.104C>T (p.Thr35Ile)	TNFRSF11B (T35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1702524	NM_002546.4(TNFRSF11B):c.605G>A (p.Cys202Tyr)	TNFRSF11B (C202Y)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1642161	NM_002546.4(TNFRSF11B):c.648G>A (p.Thr216=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635964	NM_002546.4(TNFRSF11B):c.401-5_401-4delinsCT	TNFRSF11B	Indel (intron variant)	not provided	GLikely benign
Select item 1631730	NM_002546.4(TNFRSF11B):c.30+8_30+10dup	TNFRSF11B	Duplication (intron variant)	not provided	GLikely benign

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