ClinVar for Gene (Select 8795) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3180217	NM_003842.5(TNFRSF10B):c.529G>A (p.Glu177Lys)	TNFRSF10B (E177K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3180216	NM_003842.5(TNFRSF10B):c.238T>A (p.Leu80Met)	TNFRSF10B (L80M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180214	NM_003842.5(TNFRSF10B):c.1186G>A (p.Asp396Asn)	TNFRSF10B (D367N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180213	NM_003842.5(TNFRSF10B):c.1151C>T (p.Thr384Met)	TNFRSF10B (T355M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067904	NM_003842.5(TNFRSF10B):c.598del (p.Ser200fs)	TNFRSF10B (S200fs)	Deletion (frameshift variant +1 more)	Squamous cell carcinoma of the head and neck	GLikely pathogenic
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	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 3059674	NM_003842.5(TNFRSF10B):c.572T>C (p.Val191Ala)	TNFRSF10B (V191A)	Single nucleotide variant (missense variant +1 more)	TNFRSF10B-related disorder	GBenign
Select item 3056241	NM_003842.5(TNFRSF10B):c.200C>T (p.Ala67Val)	TNFRSF10B (A67V)	Single nucleotide variant (missense variant)	TNFRSF10B-related disorder	GBenign
Select item 3055816	NM_003842.5(TNFRSF10B):c.657A>G (p.Thr219=)	TNFRSF10B	Single nucleotide variant (synonymous variant +1 more)	TNFRSF10B-related disorder	GLikely benign
Select item 3053266	NM_003842.5(TNFRSF10B):c.769C>T (p.Arg257Cys)	TNFRSF10B (R228C +1 more)	Single nucleotide variant (missense variant +1 more)	TNFRSF10B-related disorder	GLikely benign
Select item 3051063	NM_003842.5(TNFRSF10B):c.270C>T (p.Asp90=)	TNFRSF10B	Single nucleotide variant (synonymous variant +1 more)	TNFRSF10B-related disorder	GLikely benign
Select item 3042611	NM_003842.5(TNFRSF10B):c.*5G>T	TNFRSF10B	Single nucleotide variant (3 prime UTR variant +1 more)	TNFRSF10B-related disorder	GLikely benign
Select item 3040635	NM_003842.5(TNFRSF10B):c.300A>G (p.Gly100=)	TNFRSF10B	Single nucleotide variant (synonymous variant +1 more)	TNFRSF10B-related disorder	GLikely benign
Select item 3040322	NM_003842.5(TNFRSF10B):c.279T>C (p.Asp93=)	TNFRSF10B	Single nucleotide variant (synonymous variant +1 more)	TNFRSF10B-related disorder	GLikely benign
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684534	GRCh37/hg19 8p21.3(chr8:22492103-22913733)x3	BIN3, EGR3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658477	NM_003842.5(TNFRSF10B):c.129C>T (p.Ala43=)	LOC111255642, TNFRSF10B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618189	NM_003842.5(TNFRSF10B):c.360T>G (p.Asp120Glu)	TNFRSF10B (D120E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607488	NM_003842.5(TNFRSF10B):c.745T>A (p.Ser249Thr)	TNFRSF10B (S249T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2556566	NM_003842.5(TNFRSF10B):c.1034T>G (p.Phe345Cys)	TNFRSF10B (F316C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549951	NM_003842.5(TNFRSF10B):c.677T>C (p.Ile226Thr)	TNFRSF10B (I197T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544626	NM_003842.5(TNFRSF10B):c.124G>A (p.Val42Ile)	LOC111255642, TNFRSF10B (V42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543908	NM_003842.5(TNFRSF10B):c.461G>A (p.Arg154Gln)	TNFRSF10B (R154Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2543801	NM_003842.5(TNFRSF10B):c.524A>C (p.Asp175Ala)	TNFRSF10B (D175A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523098	NM_003842.5(TNFRSF10B):c.919G>A (p.Glu307Lys)	TNFRSF10B (E278K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515196	NM_003842.5(TNFRSF10B):c.905T>C (p.Met302Thr)	TNFRSF10B (M273T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2405869	NM_003842.5(TNFRSF10B):c.184G>A (p.Ala62Thr)	TNFRSF10B (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401158	NM_003842.5(TNFRSF10B):c.23C>T (p.Ala8Val)	LOC111255642, TNFRSF10B (A8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396616	NM_003842.5(TNFRSF10B):c.1045G>T (p.Val349Leu)	TNFRSF10B (V349L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384320	NM_003842.5(TNFRSF10B):c.1127C>T (p.Ala376Val)	TNFRSF10B (A347V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379353	NM_003842.5(TNFRSF10B):c.941C>T (p.Pro314Leu)	TNFRSF10B (P314L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337013	NM_003842.5(TNFRSF10B):c.506A>G (p.Asp169Gly)	TNFRSF10B (D169G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328604	NM_003842.5(TNFRSF10B):c.1074G>A (p.Met358Ile)	TNFRSF10B (M329I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323320	NM_003842.5(TNFRSF10B):c.799G>C (p.Ala267Pro)	TNFRSF10B (A238P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282646	NM_003842.5(TNFRSF10B):c.737G>T (p.Gly246Val)	TNFRSF10B (G217V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269438	NM_003842.5(TNFRSF10B):c.685G>T (p.Val229Leu)	TNFRSF10B (V200L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259088	NM_003842.5(TNFRSF10B):c.845C>A (p.Thr282Asn)	TNFRSF10B (T253N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258334	NM_003842.5(TNFRSF10B):c.1048C>T (p.Pro350Ser)	TNFRSF10B (P350S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222510	NM_003842.5(TNFRSF10B):c.502G>A (p.Gly168Ser)	TNFRSF10B (G168S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2211215	NM_003842.5(TNFRSF10B):c.407T>C (p.Val136Ala)	TNFRSF10B (V136A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 792997	NM_003842.5(TNFRSF10B):c.633C>T (p.Leu211=)	TNFRSF10B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 762025	NM_003842.5(TNFRSF10B):c.393G>A (p.Thr131=)	TNFRSF10B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739498	NM_003842.5(TNFRSF10B):c.365-6C>T	TNFRSF10B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 738640	NM_003842.5(TNFRSF10B):c.251-10C>T	TNFRSF10B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 719596	NM_003842.5(TNFRSF10B):c.168C>T (p.Ile56=)	TNFRSF10B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 714378	NM_003842.5(TNFRSF10B):c.56G>A (p.Gly19Asp)	LOC111255642, TNFRSF10B (G19D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	ADAM28, ADAM7 +111 more	Copy number gain	not provided	GPathogenic
Select item 563487	GRCh37/hg19 8p21.3(chr8:22539315-22932915)x3	EGR3, RHOBTB2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 443001	GRCh37/hg19 8p21.3(chr8:22492051-23039856)x3	BIN3, EGR3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442673	GRCh37/hg19 8p21.3(chr8:22381361-23226751)x3	BIN3, C8orf58 +14 more	Copy number gain	See cases	GLikely benign
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic

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