11909[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 146552	GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1	LOC110120802, LOC111556135 +93 more	Copy number loss	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 145965	GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1	MTBP, RAD21 +101 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 152006	GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1	AARD, CCN3 +108 more	Copy number loss	See cases	GPathogenic
Select item 150131	GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1	AARD, CCN3 +106 more	Copy number loss	See cases	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 60406	GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1	CCN3, COL14A1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151127	GRCh38/hg38 8q24.12(chr8:118626991-119703035)x3	CCN3, COLEC10 +16 more	Copy number gain	See cases	GUncertain significance
Select item 208808	NC_000008.11:g.(118690580_118696647)_(118950613_118950848)del	SAMD12-AS1, TNFRSF11B	Deletion	Hyperphosphatasemia with bone disease	GPathogenic
Select item 6968	nsv513786	COLEC10, TNFRSF11B	Deletion	Hyperphosphatasemia with bone disease	GPathogenic
Select item 908146	NM_002546.4(TNFRSF11B):c.*799G>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361682	NM_002546.4(TNFRSF11B):c.*682T>C	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910101	NM_002546.4(TNFRSF11B):c.*609G>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361683	NM_002546.4(TNFRSF11B):c.*583T>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 361684	NM_002546.4(TNFRSF11B):c.*545T>C	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GLikely benign
Select item 910102	NM_002546.4(TNFRSF11B):c.*505A>G	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910103	NM_002546.4(TNFRSF11B):c.*487T>C	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910104	NM_002546.4(TNFRSF11B):c.*463T>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910105	NM_002546.4(TNFRSF11B):c.*412A>G	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361685	NM_002546.4(TNFRSF11B):c.*367G>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease +1 more	GBenign
Select item 910993	NM_002546.4(TNFRSF11B):c.*349T>A	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910994	NM_002546.4(TNFRSF11B):c.*213C>T	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361686	NM_002546.4(TNFRSF11B):c.*207C>G	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 910995	NM_002546.4(TNFRSF11B):c.*166C>G	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361687	NM_002546.4(TNFRSF11B):c.*67C>T	TNFRSF11B	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 1454756	NM_002546.4(TNFRSF11B):c.1205A>T (p.Ter402Leu)	TNFRSF11B	Single nucleotide variant (stop lost)	not provided	GPathogenic
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 2810350	NM_002546.4(TNFRSF11B):c.1173C>G (p.Asn391Lys)	TNFRSF11B (N391K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757553	NM_002546.4(TNFRSF11B):c.1173C>T (p.Asn391=)	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 361688	NM_002546.4(TNFRSF11B):c.1150T>C (p.Leu384=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	Hyperphosphatasemia with bone disease +1 more	GBenign
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 2104747	NM_002546.4(TNFRSF11B):c.1140G>C (p.Leu380Phe)	TNFRSF11B (L380F)	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 3012328	NM_002546.4(TNFRSF11B):c.1109G>A (p.Arg370Lys)	TNFRSF11B (R370K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1493891	NM_002546.4(TNFRSF11B):c.1102A>T (p.Thr368Ser)	TNFRSF11B (T368S)	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 1428553	NM_002546.4(TNFRSF11B):c.1076A>C (p.Lys359Thr)	TNFRSF11B (K359T)	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 1380343	NM_002546.4(TNFRSF11B):c.1026G>C (p.Leu342Phe)	TNFRSF11B (L342F)	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 3008233	NM_002546.4(TNFRSF11B):c.999A>T (p.Arg333=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 802437	NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter)	TNFRSF11B (R333*)	Single nucleotide variant (nonsense)	Hyperphosphatasemia with bone disease	GPathogenic
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 2988428	NM_002546.4(TNFRSF11B):c.983T>C (p.Leu328Pro)	TNFRSF11B (L328P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6972	NM_002546.4(TNFRSF11B):c.966_969delinsCTT (p.Asp323fs)	TNFRSF11B (D323fs)	Indel (frameshift variant)	Hyperphosphatasemia with bone disease	GPathogenic
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 2091224	NM_002546.4(TNFRSF11B):c.962C>T (p.Pro321Leu)	TNFRSF11B (P321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742960	NM_002546.4(TNFRSF11B):c.957C>T (p.Cys319=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1406027	NM_002546.4(TNFRSF11B):c.946A>G (p.Ile316Val)	TNFRSF11B (I316V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483442	NM_002546.4(TNFRSF11B):c.935T>C (p.Ile312Thr)	TNFRSF11B (I312T)	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 2192416	NM_002546.4(TNFRSF11B):c.909G>A (p.Pro303=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3180235	NM_002546.4(TNFRSF11B):c.895A>T (p.Met299Leu)	TNFRSF11B (M299L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 197745	NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	Hyperphosphatasemia with bone disease +2 more	GBenign/Likely benign
Select item 816653	NM_002546.4(TNFRSF11B):c.884T>C (p.Leu295Pro)	TNFRSF11B (L295P)	Single nucleotide variant (missense variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 762417	NM_002546.4(TNFRSF11B):c.855T>C (p.Ile285=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 912224	NM_002546.4(TNFRSF11B):c.853A>G (p.Ile285Val)	TNFRSF11B (I285V)	Single nucleotide variant (missense variant)	not provided +2 more	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 912225	NM_002546.4(TNFRSF11B):c.841G>T (p.Val281Leu)	TNFRSF11B (V281L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 721186	NM_002546.4(TNFRSF11B):c.841G>A (p.Val281Met)	TNFRSF11B (V281M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 759904	NM_002546.4(TNFRSF11B):c.840C>T (p.Ser280=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2996824	NM_002546.4(TNFRSF11B):c.837C>T (p.Asn279=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1491959	NM_002546.4(TNFRSF11B):c.837C>G (p.Asn279Lys)	TNFRSF11B (N279K)	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 1722958	NM_002546.4(TNFRSF11B):c.820A>G (p.Ile274Val)	TNFRSF11B (I274V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631568	NM_002546.4(TNFRSF11B):c.818-11G>C	TNFRSF11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258774	NM_002546.4(TNFRSF11B):c.817+8A>C	TNFRSF11B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1352061	NM_002546.4(TNFRSF11B):c.812T>C (p.Ile271Thr)	TNFRSF11B (I271T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2965523	NM_002546.4(TNFRSF11B):c.794A>G (p.Asp265Gly)	TNFRSF11B (D265G)	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 258773	NM_002546.4(TNFRSF11B):c.768A>G (p.Leu256=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 2983867	NM_002546.4(TNFRSF11B):c.744A>G (p.Glu248=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 285282	NM_002546.4(TNFRSF11B):c.729A>T (p.Gln243His)	TNFRSF11B (Q243H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1493935	NM_002546.4(TNFRSF11B):c.724C>T (p.Arg242Trp)	TNFRSF11B (R242W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 912226	NM_002546.4(TNFRSF11B):c.720A>G (p.Ile240Met)	TNFRSF11B (I240M)	Single nucleotide variant (missense variant)	Hyperphosphatasemia with bone disease	GUncertain significance
Select item 361689	NM_002546.4(TNFRSF11B):c.714G>A (p.Glu238=)	TNFRSF11B	Single nucleotide variant (synonymous variant)	Hyperphosphatasemia with bone disease +1 more	GBenign

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