ClinVar for Gene (Select 146177) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332412	NM_173615.5(VWA3A):c.905G>A (p.Cys302Tyr)	VWA3A (C302Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332411	NM_173615.5(VWA3A):c.2891T>G (p.Leu964Arg)	VWA3A (L964R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332410	NM_173615.5(VWA3A):c.2198C>T (p.Ala733Val)	VWA3A (A733V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332409	NM_173615.5(VWA3A):c.62T>C (p.Val21Ala)	VWA3A (V21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332407	NM_173615.5(VWA3A):c.3340C>G (p.Pro1114Ala)	VWA3A (P1114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332406	NM_173615.5(VWA3A):c.2204C>T (p.Pro735Leu)	VWA3A (P735L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332405	NM_173615.5(VWA3A):c.2816A>G (p.Gln939Arg)	VWA3A (Q939R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332404	NM_173615.5(VWA3A):c.550C>T (p.Pro184Ser)	VWA3A (P184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332403	NM_173615.5(VWA3A):c.1549G>A (p.Asp517Asn)	VWA3A (D517N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332402	NM_173615.5(VWA3A):c.1025C>A (p.Ala342Glu)	VWA3A (A342E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332401	NM_173615.5(VWA3A):c.1459C>T (p.Arg487Trp)	VWA3A (R487W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332400	NM_173615.5(VWA3A):c.592G>A (p.Asp198Asn)	VWA3A (D198N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332399	NM_173615.5(VWA3A):c.2692G>A (p.Ala898Thr)	VWA3A (A898T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332397	NM_173615.5(VWA3A):c.719C>T (p.Thr240Met)	VWA3A (T240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242336	GRCh37/hg19 16p12.2(chr16:21805656-22441329)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
Select item 3189246	NM_173615.5(VWA3A):c.916A>T (p.Met306Leu)	VWA3A (M306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189245	NM_173615.5(VWA3A):c.796G>C (p.Val266Leu)	VWA3A (V266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189244	NM_173615.5(VWA3A):c.740G>A (p.Ser247Asn)	VWA3A (S247N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189243	NM_173615.5(VWA3A):c.591C>G (p.Ile197Met)	VWA3A (I197M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189242	NM_173615.5(VWA3A):c.53C>G (p.Thr18Ser)	VWA3A (T18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189241	NM_173615.5(VWA3A):c.404G>A (p.Arg135His)	VWA3A (R135H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189240	NM_173615.5(VWA3A):c.370G>A (p.Val124Met)	VWA3A (V124M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189239	NM_173615.5(VWA3A):c.3542T>C (p.Val1181Ala)	VWA3A (V1181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189238	NM_173615.5(VWA3A):c.346G>A (p.Val116Met)	VWA3A (V116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189237	NM_173615.5(VWA3A):c.3254A>G (p.His1085Arg)	VWA3A (H1085R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189236	NM_173615.5(VWA3A):c.2731G>A (p.Gly911Arg)	VWA3A (G911R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189235	NM_173615.5(VWA3A):c.2719G>A (p.Val907Ile)	VWA3A (V907I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189234	NM_173615.5(VWA3A):c.2686G>A (p.Ala896Thr)	VWA3A (A896T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189233	NM_173615.5(VWA3A):c.260G>T (p.Trp87Leu)	VWA3A (W87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189232	NM_173615.5(VWA3A):c.2544C>A (p.Ser848Arg)	VWA3A (S848R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189231	NM_173615.5(VWA3A):c.2351G>A (p.Arg784His)	VWA3A (R784H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189230	NM_173615.5(VWA3A):c.2185C>G (p.Leu729Val)	VWA3A (L729V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189229	NM_173615.5(VWA3A):c.1930G>A (p.Val644Met)	VWA3A (V644M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189228	NM_173615.5(VWA3A):c.1360G>A (p.Ala454Thr)	VWA3A (A454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063437	GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3063425	GRCh37/hg19 16p12.2(chr16:21787504-22431357)x3	CDR2, EEF2K +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063414	GRCh37/hg19 16p12.2(chr16:21946522-22710614)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3024602	GRCh37/hg19 16p12.2(chr16:21964745-22456395)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024601	GRCh37/hg19 16p12.2(chr16:21964682-22385940)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024600	GRCh37/hg19 16p12.2(chr16:21771791-22659880)x1	CDR2, EEF2K +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 2646309	NM_173615.5(VWA3A):c.3414A>G (p.Thr1138=)	VWA3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616411	NM_173615.5(VWA3A):c.2498C>T (p.Ser833Leu)	VWA3A (S833L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578775	GRCh37/hg19 16p12.2(chr16:21858865-22361170)x3	CDR2, EEF2K +7 more	Copy number gain	not provided	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2561247	NM_173615.5(VWA3A):c.2330C>T (p.Pro777Leu)	VWA3A (P777L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559740	NM_173615.5(VWA3A):c.907G>A (p.Asp303Asn)	VWA3A (D303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554963	NM_173615.5(VWA3A):c.3461T>C (p.Ile1154Thr)	VWA3A (I1154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550186	NM_173615.5(VWA3A):c.1696G>A (p.Val566Met)	VWA3A (V566M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546191	NM_173615.5(VWA3A):c.1315G>A (p.Val439Ile)	VWA3A (V439I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544659	NM_173615.5(VWA3A):c.2720T>C (p.Val907Ala)	VWA3A (V907A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524163	NM_173615.5(VWA3A):c.260G>C (p.Trp87Ser)	VWA3A (W87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523641	NM_173615.5(VWA3A):c.3128T>C (p.Leu1043Pro)	VWA3A (L1043P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498684	GRCh37/hg19 16p12.2(chr16:21964745-22385630)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 2485629	NM_173615.5(VWA3A):c.2476G>A (p.Glu826Lys)	VWA3A (E826K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480749	NM_173615.5(VWA3A):c.1253C>A (p.Ala418Asp)	VWA3A (A418D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479177	NM_173615.5(VWA3A):c.1645C>T (p.Leu549Phe)	VWA3A (L549F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463138	NM_173615.5(VWA3A):c.3056C>T (p.Ala1019Val)	VWA3A (A1019V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406382	NM_173615.5(VWA3A):c.1073A>C (p.Gln358Pro)	VWA3A (Q358P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399042	NM_173615.5(VWA3A):c.403C>T (p.Arg135Cys)	VWA3A (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397587	NM_173615.5(VWA3A):c.3325G>A (p.Gly1109Arg)	VWA3A (G1109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393327	NM_173615.5(VWA3A):c.1399A>C (p.Asn467His)	VWA3A (N467H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390338	NM_173615.5(VWA3A):c.1726C>T (p.Arg576Trp)	VWA3A (R576W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386493	NM_173615.5(VWA3A):c.2129A>G (p.Tyr710Cys)	VWA3A (Y710C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382600	NM_173615.5(VWA3A):c.1204A>T (p.Asn402Tyr)	VWA3A (N402Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377378	NM_173615.5(VWA3A):c.1749T>G (p.Cys583Trp)	VWA3A (C583W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374768	NM_173615.5(VWA3A):c.1321A>G (p.Ile441Val)	VWA3A (I441V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369914	NM_173615.5(VWA3A):c.2729A>G (p.His910Arg)	VWA3A (H910R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365821	NM_173615.5(VWA3A):c.1604T>G (p.Leu535Arg)	VWA3A (L535R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360500	NM_173615.5(VWA3A):c.376A>G (p.Lys126Glu)	VWA3A (K126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352072	NM_173615.5(VWA3A):c.2527G>A (p.Gly843Ser)	VWA3A (G843S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349093	NM_173615.5(VWA3A):c.1815C>A (p.Asp605Glu)	VWA3A (D605E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344662	NM_173615.5(VWA3A):c.2846G>A (p.Arg949His)	VWA3A (R949H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340832	NM_173615.5(VWA3A):c.1558G>C (p.Ala520Pro)	VWA3A (A520P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330748	NM_173615.5(VWA3A):c.891C>A (p.Phe297Leu)	VWA3A (F297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325684	NM_173615.5(VWA3A):c.2290A>G (p.Met764Val)	VWA3A (M764V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319307	NM_173615.5(VWA3A):c.2630A>C (p.Glu877Ala)	VWA3A (E877A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310004	NM_173615.5(VWA3A):c.2294G>C (p.Ser765Thr)	VWA3A (S765T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297780	NM_173615.5(VWA3A):c.3328C>T (p.Arg1110Cys)	VWA3A (R1110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296328	NM_173615.5(VWA3A):c.1874C>T (p.Pro625Leu)	VWA3A (P625L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289103	NM_173615.5(VWA3A):c.766A>T (p.Ile256Phe)	VWA3A (I256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278485	NM_173615.5(VWA3A):c.871A>G (p.Arg291Gly)	VWA3A (R291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266420	NM_173615.5(VWA3A):c.3031A>G (p.Thr1011Ala)	VWA3A (T1011A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256617	NM_173615.5(VWA3A):c.595G>A (p.Glu199Lys)	VWA3A (E199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247153	NM_173615.5(VWA3A):c.2024T>A (p.Val675Asp)	VWA3A (V675D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247038	NM_173615.5(VWA3A):c.2327C>T (p.Pro776Leu)	VWA3A (P776L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232593	NM_173615.5(VWA3A):c.1915G>A (p.Asp639Asn)	VWA3A (D639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231739	NM_173615.5(VWA3A):c.647C>T (p.Ala216Val)	VWA3A (A216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218358	NM_173615.5(VWA3A):c.1945G>A (p.Val649Met)	VWA3A (V649M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209911	NM_173615.5(VWA3A):c.1909G>A (p.Gly637Ser)	VWA3A (G637S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206199	NM_173615.5(VWA3A):c.1289A>G (p.Asn430Ser)	VWA3A (N430S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879353	GRCh37/hg19 16p12.2(chr16:21846039-22385630)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1879352	GRCh37/hg19 16p12.2(chr16:21780595-22385630)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809106	GRCh37/hg19 16p12.2(chr16:21967066-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808745	GRCh37/hg19 16p12.2(chr16:21931248-22431357)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GPathogenic
Select item 1808703	GRCh37/hg19 16p12.2(chr16:21761405-22710614)x1	CDR2, EEF2K +9 more	Copy number loss	not provided	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1703608	GRCh37/hg19 16p12.2(chr16:21817921-22710614)	CDR2, EEF2K +8 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1703589	GRCh37/hg19 16p12.2(chr16:21801889-22431357)	CDR2, EEF2K +7 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703534	GRCh37/hg19 16p12.2(chr16:21801889-22710614)	CDR2, EEF2K +8 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic

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