21897[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 153127	GRCh38/hg38 7p21.3(chr7:11181583-12423003)x3	LOC123924901, LOC123924902 +11 more	Copy number gain	See cases	GUncertain significance
Select item 147919	GRCh38/hg38 7p21.3(chr7:12109334-12653407)x3	C7orf78, LOC123924902 +13 more	Copy number gain	See cases	GBenign
Select item 2364874	NM_001135924.3(VWDE):c.4745A>G (p.Glu1582Gly)	VWDE (E1582G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189425	NM_001135924.3(VWDE):c.4710T>G (p.Cys1570Trp)	VWDE (C1455W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332506	NM_001135924.3(VWDE):c.4690T>C (p.Cys1564Arg)	VWDE (C1449R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234439	NM_001135924.3(VWDE):c.4684G>C (p.Gly1562Arg)	VWDE (G1292R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527542	NM_001135924.3(VWDE):c.4643G>T (p.Arg1548Leu)	VWDE (R1278L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332509	NM_001135924.3(VWDE):c.4555A>G (p.Thr1519Ala)	VWDE (T1249A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396016	NM_001135924.3(VWDE):c.4534T>C (p.Trp1512Arg)	VWDE (W1512R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189422	NM_001135924.3(VWDE):c.4529C>G (p.Ser1510Cys)	VWDE (S1395C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253154	NM_001135924.3(VWDE):c.4439A>T (p.Tyr1480Phe)	VWDE (Y1210F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521968	NM_001135924.3(VWDE):c.4429C>T (p.Arg1477Cys)	VWDE (R1477C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335650	NM_001135924.3(VWDE):c.4415A>C (p.Asn1472Thr)	VWDE (N1357T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234438	NM_001135924.3(VWDE):c.4403G>A (p.Cys1468Tyr)	VWDE (C1198Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189420	NM_001135924.3(VWDE):c.4344C>A (p.Phe1448Leu)	VWDE (F1178L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410420	NM_001135924.3(VWDE):c.4280A>G (p.Asp1427Gly)	VWDE (D1157G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234437	NM_001135924.3(VWDE):c.4193G>C (p.Cys1398Ser)	VWDE (C1283S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657325	NM_001135924.3(VWDE):c.4044T>C (p.Cys1348=)	VWDE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3189419	NM_001135924.3(VWDE):c.4037G>A (p.Cys1346Tyr)	VWDE (C1076Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189418	NM_001135924.3(VWDE):c.4010A>G (p.His1337Arg)	VWDE (H1337R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332512	NM_001135924.3(VWDE):c.3976C>A (p.Gln1326Lys)	VWDE (Q1211K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351077	NM_001135924.3(VWDE):c.3913A>C (p.Ser1305Arg)	VWDE (S1035R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600621	NM_001135924.3(VWDE):c.3810T>G (p.Ser1270Arg)	VWDE (S1000R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362686	NM_001135924.3(VWDE):c.3723T>G (p.Cys1241Trp)	VWDE (C1126W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302352	NM_001135924.3(VWDE):c.3694T>G (p.Tyr1232Asp)	VWDE (Y1117D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189417	NM_001135924.3(VWDE):c.3668A>C (p.Gln1223Pro)	VWDE (Q1108P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189416	NM_001135924.3(VWDE):c.3656T>G (p.Ile1219Ser)	VWDE (I949S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542199	NM_001135924.3(VWDE):c.3652G>A (p.Asp1218Asn)	VWDE (D1218N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3189415	NM_001135924.3(VWDE):c.3649G>T (p.Val1217Leu)	VWDE (V1102L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297352	NM_001135924.3(VWDE):c.3607C>A (p.Leu1203Met)	VWDE (L1203M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266707	NM_001135924.3(VWDE):c.3589C>T (p.Pro1197Ser)	VWDE (P1082S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551153	NM_001135924.3(VWDE):c.3548G>A (p.Cys1183Tyr)	VWDE (C1068Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189414	NM_001135924.3(VWDE):c.3541T>C (p.Cys1181Arg)	VWDE (C1066R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485683	NM_001135924.3(VWDE):c.3485T>C (p.Leu1162Pro)	VWDE (L892P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332503	NM_001135924.3(VWDE):c.3482G>A (p.Arg1161His)	VWDE (R1161H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332517	NM_001135924.3(VWDE):c.3388A>G (p.Thr1130Ala)	VWDE (T1015A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332502	NM_001135924.3(VWDE):c.3352G>A (p.Val1118Met)	VWDE (V848M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2318615	NM_001135924.3(VWDE):c.3259T>G (p.Trp1087Gly)	VWDE (W972G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332519	NM_001135924.3(VWDE):c.3232T>C (p.Cys1078Arg)	VWDE (C808R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610174	NM_001135924.3(VWDE):c.3221C>A (p.Pro1074His)	VWDE (P804H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214373	NM_001135924.3(VWDE):c.2955C>A (p.His985Gln)	VWDE (H715Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2408820	NM_001135924.3(VWDE):c.2954A>G (p.His985Arg)	VWDE (H715R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332520	NM_001135924.3(VWDE):c.2911G>A (p.Glu971Lys)	VWDE (E701K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3332515	NM_001135924.3(VWDE):c.2856C>G (p.Phe952Leu)	VWDE (F837L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189412	NM_001135924.3(VWDE):c.2842T>C (p.Phe948Leu)	VWDE (F678L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332508	NM_001135924.3(VWDE):c.2827A>G (p.Met943Val)	VWDE (M673V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332505	NM_001135924.3(VWDE):c.2809G>A (p.Val937Ile)	VWDE (V937I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2299468	NM_001135924.3(VWDE):c.2801T>G (p.Phe934Cys)	VWDE (F664C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230815	NM_001135924.3(VWDE):c.2759A>G (p.Tyr920Cys)	VWDE (Y920C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371946	NM_001135924.3(VWDE):c.2707T>C (p.Trp903Arg)	VWDE (W788R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373482	NM_001135924.3(VWDE):c.2686G>A (p.Gly896Ser)	VWDE (G896S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514569	NM_001135924.3(VWDE):c.2685C>A (p.Ser895Arg)	VWDE (S625R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332516	NM_001135924.3(VWDE):c.2671C>T (p.Pro891Ser)	VWDE (P621S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189411	NM_001135924.3(VWDE):c.2594G>T (p.Arg865Met)	VWDE (R750M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466964	NM_001135924.3(VWDE):c.2592G>C (p.Lys864Asn)	VWDE (K749N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189410	NM_001135924.3(VWDE):c.2561G>A (p.Gly854Asp)	VWDE (G739D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570095	NM_001135924.3(VWDE):c.2555A>G (p.Glu852Gly)	VWDE (E582G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189409	NM_001135924.3(VWDE):c.2541T>G (p.Asp847Glu)	VWDE (D577E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264702	NM_001135924.3(VWDE):c.2518A>G (p.Lys840Glu)	VWDE (K840E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189408	NM_001135924.3(VWDE):c.2455A>G (p.Ile819Val)	VWDE (I704V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600388	NM_001135924.3(VWDE):c.2443G>A (p.Ala815Thr)	VWDE (A700T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332523	NM_001135924.3(VWDE):c.2417C>A (p.Thr806Asn)	VWDE (T536N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570471	NM_001135924.3(VWDE):c.2389A>G (p.Thr797Ala)	VWDE (T682A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319124	NM_001135924.3(VWDE):c.2374T>C (p.Phe792Leu)	VWDE (F677L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332513	NM_001135924.3(VWDE):c.2369A>T (p.Glu790Val)	VWDE (E675V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511727	NM_001135924.3(VWDE):c.2350G>A (p.Ala784Thr)	VWDE (A784T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512895	NM_001135924.3(VWDE):c.2309C>A (p.Thr770Lys)	VWDE (T655K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512084	NM_001135924.3(VWDE):c.2309C>T (p.Thr770Met)	VWDE (T655M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332507	NM_001135924.3(VWDE):c.2294C>T (p.Pro765Leu)	VWDE (P495L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595162	NM_001135924.3(VWDE):c.2255G>A (p.Arg752Gln)	VWDE (R637Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510100	NM_001135924.3(VWDE):c.2248T>G (p.Trp750Gly)	VWDE (W480G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484158	NM_001135924.3(VWDE):c.2237G>A (p.Arg746Gln)	VWDE (R746Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2279581	NM_001135924.3(VWDE):c.2203C>T (p.Arg735Trp)	VWDE (R620W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376973	NM_001135924.3(VWDE):c.2122G>A (p.Gly708Ser)	VWDE (G708S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470681	NM_001135924.3(VWDE):c.2116A>C (p.Lys706Gln)	VWDE (K706Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189406	NM_001135924.3(VWDE):c.1976C>T (p.Ser659Phe)	VWDE (S389F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617715	NM_001135924.3(VWDE):c.1928G>C (p.Arg643Pro)	VWDE (R528P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225336	NM_001135924.3(VWDE):c.1892C>T (p.Ala631Val)	VWDE (A361V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189405	NM_001135924.3(VWDE):c.1885A>C (p.Thr629Pro)	VWDE (T514P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331687	NM_001135924.3(VWDE):c.1868G>T (p.Cys623Phe)	VWDE (C623F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332514	NM_001135924.3(VWDE):c.1745T>C (p.Met582Thr)	VWDE (M312T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189404	NM_001135924.3(VWDE):c.1741G>A (p.Gly581Arg)	VWDE (G581R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189400	NM_001135924.3(VWDE):c.1661C>A (p.Pro554His)	VWDE (P284H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306135	NM_001135924.3(VWDE):c.1652T>C (p.Ile551Thr)	VWDE (I551T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321361	NM_001135924.3(VWDE):c.1586C>A (p.Thr529Lys)	VWDE (T529K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189399	NM_001135924.3(VWDE):c.1579A>G (p.Lys527Glu)	VWDE (K527E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3332522	NM_001135924.3(VWDE):c.1567T>C (p.Tyr523His)	VWDE (Y523H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254513	NM_001135924.3(VWDE):c.1536T>A (p.Asp512Glu)	VWDE (D512E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189398	NM_001135924.3(VWDE):c.1489G>C (p.Gly497Arg)	VWDE (G497R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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