904[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
Select item 650695	NC_000017.10:g.(?_62987152)_(63554748_?)dup	LOC129390912, LOC129390913 +16 more	Duplication	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 583566	NC_000017.11:g.(?_65528591)_(65549660_?)del	AXIN2, LOC129390913	Deletion	Oligodontia-cancer predisposition syndrome	GLikely pathogenic
Select item 324627	NM_004655.4(AXIN2):c.*1209T>C	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 892002	NM_004655.4(AXIN2):c.*1180G>A	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 892003	NM_004655.4(AXIN2):c.*1153C>T	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324628	NM_004655.4(AXIN2):c.*1136T>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324629	NM_004655.4(AXIN2):c.*1016C>T	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324630	NM_004655.4(AXIN2):c.*1012T>A	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome +1 more	GBenign
Select item 892004	NM_004655.4(AXIN2):c.*987T>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324631	NM_004655.4(AXIN2):c.*957T>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GBenign
Select item 324632	NM_004655.4(AXIN2):c.*846G>A	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GBenign
Select item 324633	NM_004655.4(AXIN2):c.*794C>A	AXIN2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 889586	NM_004655.4(AXIN2):c.*737G>A	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 889587	NM_004655.4(AXIN2):c.*703G>C	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324634	NM_004655.4(AXIN2):c.*631dup	AXIN2	Duplication (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 889588	NM_004655.4(AXIN2):c.*561T>C	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324635	NM_004655.4(AXIN2):c.*500T>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GBenign
Select item 889589	NM_004655.4(AXIN2):c.*489C>T	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 2648106	NM_004655.4(AXIN2):c.476_487del	AXIN2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 324636	NM_004655.4(AXIN2):c.*469T>C	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 889590	NM_004655.4(AXIN2):c.*400C>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324637	NM_004655.4(AXIN2):c.*376A>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 890241	NM_004655.4(AXIN2):c.*345T>C	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 890242	NM_004655.4(AXIN2):c.*326A>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GBenign
Select item 324638	NM_004655.4(AXIN2):c.*320A>C	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324639	NM_004655.4(AXIN2):c.*309C>A	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome +1 more	GBenign
Select item 890243	NM_004655.4(AXIN2):c.*293A>T	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324640	NM_004655.4(AXIN2):c.*220A>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324641	NM_004655.4(AXIN2):c.*156G>A	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 890806	NM_004655.4(AXIN2):c.*147C>T	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GBenign
Select item 324642	NM_004655.4(AXIN2):c.*88A>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 324643	NM_004655.4(AXIN2):c.*74G>A	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 890807	NM_004655.4(AXIN2):c.*71T>C	AXIN2	Single nucleotide variant (3 prime UTR variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 533275	NC_000017.10:g.(?_63526088)_(63554744_?)dup	AXIN2, LOC129390913	Duplication	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 382317	NM_004655.4(AXIN2):c.*5T>G	AXIN2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2758205	NM_004655.4(AXIN2):c.2530T>C (p.Ter844Arg)	AXIN2	Single nucleotide variant (stop lost)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 1568925	NM_004655.4(AXIN2):c.2529T>C (p.Asp843=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome +1 more	GLikely benign
Select item 2867491	NM_004655.4(AXIN2):c.2528A>T (p.Asp843Val)	AXIN2 (D778V +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 1792609	NM_004655.4(AXIN2):c.2527G>T (p.Asp843Tyr)	AXIN2 (D778Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821430	NM_004655.4(AXIN2):c.2527G>A (p.Asp843Asn)	AXIN2 (D843N +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +3 more	GUncertain significance
Select item 533160	NM_004655.4(AXIN2):c.2527G>C (p.Asp843His)	AXIN2 (D843H +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 1792590	NM_004655.4(AXIN2):c.2526C>G (p.Ile842Met)	AXIN2 (I777M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 511158	NM_004655.4(AXIN2):c.2526C>T (p.Ile842=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome +2 more	GLikely benign
Select item 2769234	NM_004655.4(AXIN2):c.2519_2521dup (p.Glu840_Arg841insGln)	AXIN2	Duplication (inframe_insertion)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 937244	NM_004655.4(AXIN2):c.2522G>C (p.Arg841Pro)	AXIN2 (R776P +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 419006	NM_004655.4(AXIN2):c.2522G>A (p.Arg841Gln)	AXIN2 (R841Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 944635	NM_004655.4(AXIN2):c.2521C>G (p.Arg841Gly)	AXIN2 (R776G +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 127946	NM_004655.4(AXIN2):c.2521C>T (p.Arg841Trp)	AXIN2 (R841W +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +3 more	GUncertain significance
Select item 1115029	NM_004655.4(AXIN2):c.2520G>A (p.Glu840=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome	GLikely benign
Select item 946009	NM_004655.4(AXIN2):c.2520G>T (p.Glu840Asp)	AXIN2 (E775D +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 945892	NM_004655.4(AXIN2):c.2519A>G (p.Glu840Gly)	AXIN2 (E775G +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 1673465	NM_004655.4(AXIN2):c.2514A>G (p.Lys838=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome	GLikely benign
Select item 291017	NM_004655.4(AXIN2):c.2510del (p.Gly837fs)	AXIN2 (G772fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 956936	NM_004655.4(AXIN2):c.2509G>A (p.Gly837Ser)	AXIN2 (G772S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1792348	NM_004655.4(AXIN2):c.2508G>T (p.Leu836=)	AXIN2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 766674	NM_004655.4(AXIN2):c.2508G>A (p.Leu836=)	AXIN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2001635	NM_004655.4(AXIN2):c.2503A>G (p.Ile835Val)	AXIN2 (I770V +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 641425	NM_004655.4(AXIN2):c.2501G>A (p.Arg834Gln)	AXIN2 (R769Q +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 3013298	NM_004655.4(AXIN2):c.2500C>G (p.Arg834Gly)	AXIN2 (R834G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2803125	NM_004655.4(AXIN2):c.2500C>A (p.Arg834=)	AXIN2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 240017	NM_004655.4(AXIN2):c.2500C>T (p.Arg834Trp)	AXIN2 (R834W +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 1409641	NM_004655.4(AXIN2):c.2499C>T (p.Gly833=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 464615	NM_004655.4(AXIN2):c.2499C>A (p.Gly833=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome +3 more	GBenign/Likely benign
Select item 840873	NM_004655.4(AXIN2):c.2498G>A (p.Gly833Asp)	AXIN2 (G833D +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 2828941	NM_004655.4(AXIN2):c.2493T>C (p.Tyr831=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome	GLikely benign
Select item 1008787	NM_004655.4(AXIN2):c.2492A>G (p.Tyr831Cys)	AXIN2 (Y766C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1372396	NM_004655.4(AXIN2):c.2490G>C (p.Met830Ile)	AXIN2 (M765I +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 939793	NM_004655.4(AXIN2):c.2490G>A (p.Met830Ile)	AXIN2 (M765I +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 2679874	NM_004655.4(AXIN2):c.2489T>G (p.Met830Arg)	AXIN2 (M765R +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 572057	NM_004655.4(AXIN2):c.2489T>C (p.Met830Thr)	AXIN2 (M830T +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 240016	NM_004655.4(AXIN2):c.2489T>A (p.Met830Lys)	AXIN2 (M830K +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 1792011	NM_004655.4(AXIN2):c.2488A>G (p.Met830Val)	AXIN2 (M765V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1664835	NM_004655.4(AXIN2):c.2487G>T (p.Pro829=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome +1 more	GLikely benign
Select item 509112	NM_004655.4(AXIN2):c.2487G>A (p.Pro829=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 533168	NM_004655.4(AXIN2):c.2486C>T (p.Pro829Leu)	AXIN2 (P829L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 533243	NM_004655.4(AXIN2):c.2484C>T (p.Leu828=)	AXIN2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1565346	NM_004655.4(AXIN2):c.2481G>A (p.Val827=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome	GLikely benign
Select item 2149926	NM_004655.4(AXIN2):c.2480T>C (p.Val827Ala)	AXIN2 (V762A +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 821330	NM_004655.4(AXIN2):c.2479G>A (p.Val827Met)	AXIN2 (V762M +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 1791868	NM_004655.4(AXIN2):c.2478G>C (p.Thr826=)	AXIN2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 747399	NM_004655.4(AXIN2):c.2478G>T (p.Thr826=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome +3 more	GLikely benign
Select item 464614	NM_004655.4(AXIN2):c.2478G>A (p.Thr826=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome +1 more	GLikely benign
Select item 1492192	NM_004655.4(AXIN2):c.2477C>A (p.Thr826Lys)	AXIN2 (T826K +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 408825	NM_004655.4(AXIN2):c.2477C>T (p.Thr826Met)	AXIN2 (T826M +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +3 more	GUncertain significance
Select item 3335569	NM_004655.4(AXIN2):c.2476A>C (p.Thr826Pro)	AXIN2 (T761P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 575822	NM_004655.4(AXIN2):c.2475G>C (p.Glu825Asp)	AXIN2 (E825D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1391782	NM_004655.4(AXIN2):c.2473G>A (p.Glu825Lys)	AXIN2 (E760K +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 1902183	NM_004655.4(AXIN2):c.2472T>G (p.Asp824Glu)	AXIN2 (D759E +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 1791800	NM_004655.4(AXIN2):c.2472T>C (p.Asp824=)	AXIN2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 571013	NM_004655.4(AXIN2):c.2472T>A (p.Asp824Glu)	AXIN2 (D824E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1366963	NM_004655.4(AXIN2):c.2471A>T (p.Asp824Val)	AXIN2 (D824V +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 1791780	NM_004655.4(AXIN2):c.2470G>A (p.Asp824Asn)	AXIN2 (D759N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1487964	NM_004655.4(AXIN2):c.2467_2470del (p.Glu823fs)	AXIN2 (E823fs +1 more)	Deletion (frameshift variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 2089799	NM_004655.4(AXIN2):c.2469G>A (p.Glu823=)	AXIN2	Single nucleotide variant (synonymous variant)	Oligodontia-cancer predisposition syndrome	GLikely benign
Select item 1199175	NM_004655.4(AXIN2):c.2466G>A (p.Trp822Ter)	AXIN2 (W757* +1 more)	Single nucleotide variant (nonsense)	Oligodontia-cancer predisposition syndrome	GPathogenic
Select item 3011351	NM_004655.4(AXIN2):c.2464T>C (p.Trp822Arg)	AXIN2 (W757R +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 3335064	NM_004655.4(AXIN2):c.2463C>T (p.Ile821=)	AXIN2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign

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